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Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes

OBJECTIVE

To determine the relationship between ATP7B mutations and diabetes in Wilson disease (WD).

RESEARCH DESIGN AND METHODS

A total of 21 exons and exon-intron boundaries of ATP7B were identified by Sanger sequencing.

RESULTS

Two novel compound heterozygous mutations (c.525 dupA/ Val176Serfs*28 and c.2930 C>T/ p.Thr977Met) were detected in ATP7B. After d-penicillamine (D-PCA) therapy, serum aminotransferase and ceruloplasmin levels in this patient were normalized and levels of HbA1c decreased. However, when the patient ceased to use D-PCA due to an itchy skin, serum levels of fasting blood glucose increased. Dimercaptosuccinic acid capsules were prescribed and memory recovered to some extent, which was accompanied by decreased insulin dosage for glucose control by 5 units.

CONCLUSIONS

This is the first report of diabetes caused by WD.




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To be or not to be there: Conferencing in the age of flygskam

I didn’t go to the joint meetings (JMM) this year. This is despite the following good reasons I had to go:  I’m in my fifth year, applying for jobs, and this is the time when you’re supposed to get out … Continue reading




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A dictionary of medicine : including general pathology, general therapeutics, hygiene, and the diseases of women and children / by various writers ; edited by Richard Quain ; assisted by Frederick Thomas Roberts and J. Mitchell Bruce.

London : Longmans, Green, 1894.




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Dictionnaire d'hygiène publique et de salubrité : ou, Répertoire de toutes les questions relatives à la santé publique, considérées dans leurs rapports avec les subsistances, les epidémies, les professions, les

Paris : J.-B. Bailliere ; Londres : H. Bailliere, 1852-1854.




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Die Bekämpfung der Infectionskrankheiten : Hygienischer Theil / von Oberingenieur Brix, Professor Dr. Pfuhl und Hafenarzt Dr. Nocht ; herausgegeben von Stabsarzt Professor Dr. Behring.

Leipzig : G. Thieme, 1894.




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Die Beseitigung und Verwertung des Hausmülls vom hygienischen und volkswirtschaftlichen Standpunkte / von J. H. Vogel.

Jena : Fischer, 1897.




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Die Bestattung der Toden in Bezug auf Hygieine, geschichtliche Entwicklung und Gesetzliche Bestimmungen betrachtet / betrachtet von A. Wernher.

Giessen : J. Ricker, 1880.




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Die Ergebnisse der tropenhygienischen Fragebogen : besonders vom Gesichtspunkte des internationalen Seuchenschutzes aus betrachtet / von E. Below.

Leipzig : G. Thieme, 1892.




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Die Kohlenoxyd-Vergiftung in ihrer klinischen, hygienischen und gerichtsärztlichen Bedeutung / von Willy Sachs.

Braunschweig : Vieweg, 1900.




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Die menschliche Zelle : Grundzüge ihrer Daseins und ihrer Gesundheitspflege-Cellular-Biologie und Cellular-Hygiene / von Carl Francke.

Leipzig : G. Thieme, 1891.




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Die Methoden der Milchuntersuchung : für Aerzte, Chemiker und Hygieniker / zusammengestellt von Paul Sommerfeld ; mit einem Vorwort von Adolf Baginsky.

Berlin : A. Hirschwald, 1896.




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Die sexuelle Hygiene und ihre ethischen Konsequenzen : drei Vorlesungen / von Seved Ribbing ; Deutsch von Oscar Reyher.

Leipzig : P. Hobbing, 1890.




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Die Trinksitten, ihre hygienische und sociale Bedeutung : Ihre Beziehungen zur akademischen Jugend : eine Ansprache an die Enthaltsamkeits-Vereine der Studenten zu Christiania und Upsala ... / von August Forel.

Stuttgart : F. Enke, 1891.




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Die Vererbung von Krankheiten und die etwaigen Mittel, derselben entgegenzuwirken : eine hygienische Monographie / von Dr. Merten.

Stuttgart : F. Enke, 1879.




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Élémens d'hygiène, ou de l'Influence des choses physiques et morales sur l'homme, et des moyens de conserver la santé / par Étienne Tourtelle.

Paris : Rémont, 1815.




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Ein neuer Sphygmograph und neue Beobachtungen an den Pulscurven der Radialarterie / von Julius Sommerbrodt.

Breslau : A. Gosohorsky, 1876.




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Enzyklopädisches Handbuch der Schulhygiene / unter Mitarbeit von F.W. Büsing, Hermann Krollick [and others] ; herausgegeben von R. Wehmer.

Wien : A. Pichlers Witwe, 1904.




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Essai d'hygiène générale / par L. - C. - A. Motard.

Paris : Pesron, 1841.




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Essai sur l'application de la chimie a l'étude physiologique du sang de l'homme : et a l'étude physiologico-pathologique, hygiénique et thérapeutique des maladies de cette humeur / par P.S. Denis.

Paris : Béchet jeune, 1838.




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Étude hygienique sur la profession de mouleur en cuivre : pour servir a l'histoire des professions exposées aux poussières inorganiques / par Ambroise Tardieu.

Paris, [France] : J.B. Baillière, Libraire de l'Académie Impériale de Médicine, 1854.




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Étude hygiénique et médico-légale sur la fabrication et l'emploi des allumettes chimiques / Ambroise Tardieu.

Paris, [France] : J.B. Baillière, Libraire de l'Académie Impériale de Médicine, 1856.




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Oxygen transport to tissue XLI

International Society on Oxygen Transport to Tissue. Annual Meeting (46th : 2018 : Seoul, Korea)
9783030344610 (electronic bk.)




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Contribution of NPY Y5 Receptors to the Reversible Structural Remodeling of Basolateral Amygdala Dendrites in Male Rats Associated with NPY-Mediated Stress Resilience

Endogenous neuropeptide Y (NPY) and corticotrophin-releasing factor (CRF) modulate the responses of the basolateral amygdala (BLA) to stress and are associated with the development of stress resilience and vulnerability, respectively. We characterized persistent effects of repeated NPY and CRF treatment on the structure and function of BLA principal neurons in a novel organotypic slice culture (OTC) model of male rat BLA, and examined the contributions of specific NPY receptor subtypes to these neural and behavioral effects. In BLA principal neurons within the OTCs, repeated NPY treatment caused persistent attenuation of excitatory input and induced dendritic hypotrophy via Y5 receptor activation; conversely, CRF increased excitatory input and induced hypertrophy of BLA principal neurons. Repeated treatment of OTCs with NPY followed by an identical treatment with CRF, or vice versa, inhibited or reversed all structural changes in OTCs. These structural responses to NPY or CRF required calcineurin or CaMKII, respectively. Finally, repeated intra-BLA injections of NPY or a Y5 receptor agonist increased social interaction, a validated behavior for anxiety, and recapitulated structural changes in BLA neurons seen in OTCs, while a Y5 receptor antagonist prevented NPY's effects both on behavior and on structure. These results implicate the Y5 receptor in the long-term, anxiolytic-like effects of NPY in the BLA, consistent with an intrinsic role in stress buffering, and highlight a remarkable mechanism by which BLA neurons may adapt to different levels of stress. Moreover, BLA OTCs offer a robust model to study mechanisms associated with resilience and vulnerability to stress in BLA.

SIGNIFICANCE STATEMENT Within the basolateral amygdala (BLA), neuropeptide Y (NPY) is associated with buffering the neural stress response induced by corticotropin releasing factor, and promoting stress resilience. We used a novel organotypic slice culture model of BLA, complemented with in vivo studies, to examine the cellular mechanisms associated with the actions of NPY. In organotypic slice cultures, repeated NPY treatment reduces the complexity of the dendritic extent of anxiogenic BLA principal neurons, making them less excitable. NPY, via activation of Y5 receptors, additionally inhibits and reverses the increases in dendritic extent and excitability induced by the stress hormone, corticotropin releasing factor. This NPY-mediated neuroplasticity indicates that resilience or vulnerability to stress may thus involve neuropeptide-mediated dendritic remodeling in BLA principal neurons.




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An Amygdalo-Parabrachial Pathway Regulates Pain Perception and Chronic Pain

The parabrachial (PB) complex mediates both ascending nociceptive signaling and descending pain modulatory information in the affective/emotional pain pathway. We have recently reported that chronic pain is associated with amplified activity of PB neurons in a rat model of neuropathic pain. Here we demonstrate that similar activity amplification occurs in mice, and that this is related to suppressed inhibition to lateral parabrachial (LPB) neurons from the CeA in animals of either sex. Animals with pain after chronic constriction injury of the infraorbital nerve (CCI-Pain) displayed higher spontaneous and evoked activity in PB neurons, and a dramatic increase in after-discharges, responses that far outlast the stimulus, compared with controls. LPB neurons in CCI-Pain animals showed a reduction in inhibitory, GABAergic inputs. We show that, in both rats and mice, LPB contains few GABAergic neurons, and that most of its GABAergic inputs arise from CeA. These CeA GABA neurons express dynorphin, somatostatin, and/or corticotropin releasing hormone. We find that the efficacy of this CeA-LPB pathway is suppressed in chronic pain. Further, optogenetically stimulating this pathway suppresses acute pain, and inhibiting it, in naive animals, evokes pain behaviors. These findings demonstrate that the CeA-LPB pathway is critically involved in pain regulation, and in the pathogenesis of chronic pain.

SIGNIFICANCE STATEMENT We describe a novel pathway, consisting of inhibition by dynorphin, somatostatin, and corticotropin-releasing hormone-expressing neurons in the CeA that project to the parabrachial nucleus. We show that this pathway regulates the activity of pain-related neurons in parabrachial nucleus, and that, in chronic pain, this inhibitory pathway is suppressed, and that this suppression is causally related to pain perception. We propose that this amygdalo-parabrachial pathway is a key regulator of both chronic and acute pain, and a novel target for pain relief.




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A playground for Bar, Montenegro

No public playground exists in Bar, Montenegro. This year, OM Montenegro plans to build one with the help of an outreach team.




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A playground for the city of Bar

Four volunteers from Switzerland. One empty park. Ten days to build a playground. Could it be done?




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Discharged on Supplemental Oxygen From an Emergency Department in Patients With Bronchiolitis

Bronchiolitis is the most common cause for hospital admission in patients aged <1 year. Hypoxia is a common reason for admission. Despite a multitude of studies looking at various treatment strategies, no clear benefit has been found.

With oxygen therapy being the main therapeutic option, home oxygen offers a novel way to manage bronchiolitis. This study shows that home oxygen is a safe and effective way to decrease hospital admissions in a select group of patients. (Read the full article)




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Playground Safety and Quality in Chicago

Quality urban playgrounds that are accessible and safe support physical activity and decrease injury rates. Little is known about the quality and accessibility of playgrounds in Chicago public parks.

Most playgrounds in Chicago are in fair condition, yet access to quality playgrounds varies by neighborhood. Public/private collaboration can lead to improved playgrounds, and failing playgrounds can be improved with modest investment. (Read the full article)




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Oxygen Delivery Using a Neonatal Self-inflating Resuscitation Bag: Effect of Oxygen Flow

Excess tissue oxygenation should be avoided during neonatal resuscitation, especially in premature infants. Delivered oxygen concentrations when using a self-inflating bag (SIB) at oxygen flows <1 L/min remain to be established.

Low oxygen concentrations (30%– 40%) can be delivered with a SIB at an oxygen flow <1 L/min. A practical scheme has been developed correlating the oxygen flow rate and the corresponding delivered fraction of oxygen when using a neonatal SIB. (Read the full article)




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Oxygen Saturation Nomogram in Newborns Screened for Critical Congenital Heart Disease

Universal oxygen saturation screening by pulse oximetry is now recommended for early detection of critical congenital heart disease. The distribution of saturations in asymptomatic newborns in a large population has not been described.

Our study is the largest to date to establish simultaneous pre- and postductal oxygen saturation nomograms in asymptomatic newborns at ~24 hours after birth. The mean postductal saturation is higher than preductal during this time. (Read the full article)




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Resuscitation of Preterm Neonates With Limited Versus High Oxygen Strategy

Preterm infants can be successfully resuscitated with <100% oxygen (O2); however, initiation with room air remains controversial. Current Neonatal Resuscitation Program (NRP) guidelines suggest using air or blended O2 to titrate O2 to meet target preductal saturation goals.

This is the first trial to compare a limited O2 strategy to target NRP–recommended transitional goal saturations versus a high O2 strategy in preterm infants. The limited O2 strategy decreased integrated excess oxygen and oxidative stress and improved respiratory outcomes. (Read the full article)




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Closed-Loop Automatic Oxygen Control (CLAC) in Preterm Infants: A Randomized Controlled Trial

In preterm infants receiving supplemental oxygen, manual control of the inspired oxygen fraction is often difficult and time consuming, which may increase the risk of complications. We developed a system for automatic oxygen control and proved its efficacy in the past.

A multicenter study adds evidence for the proposed automatic oxygen control system to significantly improve oxygen administration to preterm infants receiving mechanical ventilation or nasal continuous positive airway pressure while reducing workload compared with routine manual oxygen control. (Read the full article)




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Outpatient Course and Complications Associated With Home Oxygen Therapy for Mild Bronchiolitis

Home oxygen has been safely incorporated into emergency department management of bronchiolitis in certain populations. After discharge, a small proportion of patients (2.7%–6%) require subsequent admission. For patients managed successfully as outpatients, pediatricians report variable practice styles and comfort levels.

Our results define the clinical course and outpatient burden associated with discharge on home oxygen. By using an integrated health care system, we captured slightly higher rates (9.4%) of subsequent admission and found fever to be associated with this outcome. (Read the full article)




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Motor Performance After Neonatal Extracorporeal Membrane Oxygenation: A Longitudinal Evaluation

After neonatal extracorporeal membrane oxygenation treatment, children are at risk for neurodevelopmental problems including delayed motor function. So far this has only been studied cross-sectionally until age 7 years.

We describe, in a nationwide evaluation, the longitudinal course of motor function development after neonatal extracorporeal membrane oxygenation with persisting problems up to 12 years. At risk are children with congenital diaphragmatic hernia and those with chronic lung disease. (Read the full article)




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Cerebral Oxygenation in Preterm Infants

Prone sleeping is a major risk factor for sudden infant death syndrome (SIDS). Cerebral oxygenation and blood pressure are reduced in the prone sleeping position in healthy term infants. Preterm infants are at significantly increased risk of SIDS.

Preterm infants display reduced cerebral oxygenation compared with term infants, most prominently at 2 to 3 months corrected age in the prone position when blood pressure is concurrently reduced. This may contribute to the increased risk for SIDS among infants born preterm. (Read the full article)




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Sundeck BBQs, trivia nights, and strict hygiene rules: An inside look at the life of crews locked down on luxury superyachts

Source: www.businessinsider.com - Saturday, May 09, 2020
Many superyacht crew members have been stuck on their vessels after lockdowns and travel bans were instated due to the coronavirus pandemic. We spoke to crew members who felt 'lucky' to be quarantined in such luxury digs — and grateful to still have jobs and secure wages. There is still plenty of work to be done, but workers also described trivia games, sundeck BBQs, and hot tub nights they're using to pass the time and bond with colleagues. Strict new hygiene and sanitation rules have also been put into place. Visit Business Insider's homepage for more stories . In late March, billionaire businessman David Geffen posted a shot on Instagram taken from his 452-foot superyacht Rising Sun. It was hastily deleted — but not before it had raised more than a few eyebrows and stirred discourse around the 1% and their self-isolation privilege. But it's not just the rare billionaire who is bunkering down on their yacht during the COVID-19 pandemic. Here is another group of people for whom this is a new reality: the yacht's crews.  Before this crisis, there were around 80,000 people employed on pleasure craft around the globe, according to Laurence Lewis, CEO of YPI Crew, a yacht recruitment agency. As countries rushed to close their borders, ports were closed — and overnight, many found themselves unable to travel to get to or leave their yachts.  For many, a superyacht sounds like the dream scenario to see out lockdown. But is it?  "Ther




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Imipenem population pharmacokinetics: therapeutic drug monitoring data collected in critically ill patients with or without extracorporeal membrane oxygenation [Pharmacology]

Carbapenem pharmacokinetic profiles are significantly changed in critically ill patients because of the drastic variability of the patients' physiological parameters. Published population PK studies have mainly focused on specific diseases and the majority of these studies had small sample sizes. The aim of this study was to develop a population PK model of imipenem in critically ill patients that estimated the influence of various clinical and biological covariates and the use of Extracorporeal Membrane Oxygenation (ECMO) and Continuous Renal Replacement Therapy (CRRT). A two-compartment population PK model with Creatinine clearance (CrCL), body weight (WT), and ECMO as fixed effects was developed using the non-linear mixed effect model (NONMEM). A Monte Carlo simulation was performed to evaluate various dosing schemes and different levels of covariates based on the pharmacokinetic/pharmacodynamic index (f%T>MIC) for the range of clinically relevant minimum inhibitory concentrations(MICs). The results showed that there may be insufficient drug use in the clinical routine drug dose regimen, and 750mg Q6h could achieve a higher treatment success rate. The blood concentrations of imipenem in ECMO patients were lower than that of non-ECMO patients, therefore dosage may need to be increased. The dosage may need adjustment for patients with CrCL ≤ 70ml/min, but dose should be lowered carefully to avoid the insufficient drug exposure. Dose adjustment is not necessary for patients within the WT ranging from 50-80 kg. Due to the large variation in PK profile of imipenem in critically ill patients, TDM should be carried out to optimize drug regimens.




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Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity (STOP-ROP), A Randomized, Controlled Trial. I: Primary Outcomes

The STOP-ROP Multicenter Study Group
Feb 1, 2000; 105:295-310
ARTICLES




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Abnormal Pulmonary Outcomes in Premature Infants: Prediction From Oxygen Requirement in the Neonatal Period

Andrew T. Shennan
Oct 1, 1988; 82:527-532
ARTICLES




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Coronavirus: Priests in Peru fund oxygen plant to meet shortage

Lima, Peru, May 7, 2020 / 06:00 am (CNA).- Two priests in a rural area of Peru aimed to fight the coronavirus pandemic by finding a way to supply oxygen tanks, much needed for medical treatment, to their region.

The recent death of two doctors from coronavirus in Iquitos, Peru, underscored the hard-hit region’s shortage of medical equipment and medications. Both doctors died because of the lack of oxygen to treat them.

The Medical Corps of Hospital III of Iquitos and the Medical College of Peru said in a joint statement last month that there is a shortage of medications in the Loreto region, and its capital Iquitos is "one of the cities hardest hit by the infection."

“We don’t have medications” to treat coronavirus patients and “not enough oxygen tanks, pressure gauges and refilled tanks,” they reported.

One doctor was in intensive care at Loreto Regional Hospital and the other at a hospital under the country’s universal health insurance program, both in Iquitos, the Medical College of Peru said on social media.

Fr. Raymond Portelli, a parish pastor in Iquitos, along with the diocesan administrator of the Apostolic Vicariate of Iquitos, Fr. Miguel Fuertes, decided to start a fundraising campaign to acquire an oxygen plant for the city.

Portelli himself is a doctor caring for COVID-19 patients.

To purchase the machinery, they needed to raise about $118,000.

The city does have an oxygen plant, but it only produces between 100 and 160 tanks a day. The dean of the Medical College of Peru, Miguel Palacios, told local media that quantity is not enough and that current production would need to be tripled.

The priests’ campaign was launched the morning of May 3 on social media, and in less than a day, they had raised about $300,000.

Both priests thanked contributors, and said that thanks to the amount collected, a “high capacity” plant could be purchased for Iquitos.

Portelli added that Fuentes is currently in Lima coordinating with a specialist for the acquisition of the plant.

“Pray a lot that this work can be accomplished quickly. May God bless all who have contributed. We hope to continue to cover all the expenses,” he added.

  This story was first published by CNA's Spanish-language news partner, ACI Prensa. It has been translated and adapted by CNA.



 




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DNREC Campgrounds and Playgrounds to Close March 24

DOVER, Del. – As part of precautions against the spread of coronavirus (COVID-19), the Department of Natural Resources and Environmental Control will close its Delaware State Park campgrounds and playgrounds Tuesday, March 24, and cancel campground reservations scheduled through May 15. Full refunds will be issued for reservations scheduled during that time. While state parks […]




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Financial wellness: Tips for investment hygiene in times of Covid-19

An emergency fund equal to 6-12 months of your monthly expenses is the financial equivalent of N95 masks. And check your health insurance plan.




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396 People Recover From COVID-19 With Early Oxygen Therapy In Bhopal

A total of 396 people have recovered from coronavirus infection through early oxygen therapy at Chirayu Hospital in Madhya Pradesh's capital city Bhopal.




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Glucon-D and Tonic Worldwide launch #EnergyGharKi campaign to celebrate mothers

The campaign applauds mothers for their unwavering energy at all hours of the day




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Seychellois Rupee(SCR)/Paraguayan Guarani(PYG)

1 Seychellois Rupee = 380.4539 Paraguayan Guarani




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Trinidad and Tobago Dollar(TTD)/Paraguayan Guarani(PYG)

1 Trinidad and Tobago Dollar = 966.5708 Paraguayan Guarani



  • Trinidad and Tobago Dollar

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Swedish Krona(SEK)/Paraguayan Guarani(PYG)

1 Swedish Krona = 668.4135 Paraguayan Guarani




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Slovak Koruna(SKK)/Paraguayan Guarani(PYG)

1 Slovak Koruna = 294.1399 Paraguayan Guarani




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Serbian Dinar(RSD)/Paraguayan Guarani(PYG)

1 Serbian Dinar = 60.2247 Paraguayan Guarani




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Polish Zloty(PLN)/Paraguayan Guarani(PYG)

1 Polish Zloty = 1553.4027 Paraguayan Guarani