Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening

Carnitine uptake defect (CUD) is a rare autosomal recessive disorder caused by pathogenic variants in the SLC22A5 gene, resulting in primary carnitine transporter (OCTN2) deficiency and disturbed fatty acid oxidation. Patients may present in infancy with hypoketotic hypoglycemia, metabolic crisis, muscle weakness, cardiomyopathy, or sudden death, while some may remain asymptomatic even if not treated. We present a patient detected by newborn screening (NBS) who harbored a previously unreported homozygous variant in the SLC22A5 gene. OCTN2 activity testing showed mild deficiency

The Detection of Carious Lesion Porphyrins Using Violet Laser Induced Fluorescence

U istraživanju se željelo odrediti spektralna područja za lasersku ekscitaciju otopina protoporfirina IX (PP-a), koproporfirina (CP-a) i uroporfirina (UP-a) s različitim pH-vrijednostima. Drugi je cilj bio usporediti spektre laserski inducirane fluorescencije (LIF-a) otopina PP-a, CP-a i UP-a različitih pH-vrijednosti s fluorescencijom prirodne karijesne lezije i rezultatima ostalih istraživanja. Materijali i postupci: Apsorpcijski spektri otopina PP-a, CP-a i UP-a s pH-vrijednostima u rasponu od 0,6 do 13 izmjereni su spektrofotometrom (model Varian). Laser od 405 nm (10mW) odabran je prema najvišoj apsorpciji porfirina za mjerenja spektra laserski inducirane fluorescencije (LIF-a) PP-a, CP-a i UP-a te prirodne karijesne lezije. Rezultati: Ovisno o pH-vrijednosti, LIF-ove otopine PP-a, CP-a i UP-a pokazuju pomak prema višim valnim duljinama. U kiseloj otopini PP-a uočeni su fluorescencijski vršci na 601 nm i 655 nm nakon ekscitacije lasera na valnoj duljini od 405 nm. Zaključak: In vitro mjerenja LIF-a porfirinskih otopina ljubičastim laserom pokazuju sličnosti s valnim duljinama prave karijesne lezije i vrhovima fluorescencijskih vrpci prirodnih zuba poznatih iz literature. Ipak, fluorescencija testiranih porfirina ne objašnjava potpuno fluorescencijske spektre zubnog karijesa te su potrebna daljnja istraživanja. Čini se da pH ima važan utjecaj na svjetlosnu apsorpciju i emisiju porfirina.Objectives: The aim of the study was to establish spectral regions for laser excitation of protoporphyrin IX (PP), coproporphyrin (CP) and uroporphyrin (UP) solutions under different pH conditions. The second aim was to compare laser induced fluorescence (LIF) spectra of PP, CP and UP solutions with various pH to the fluorescence of natural carious lesion and the results of other studies. Materials and methods: Absorption spectra of PP, CP and UP solutions with pH values in range from 0.6-13.0 were taken on a Varian model spectrophotometer. According to the peak absorption of the porphyrins used, laser at 405 nm (10 mW) was selected for LIF measurements of PP, CP and UP solutions, as well as the natural carious lesion. Results: Depending on the pH value, the LIF of the PP, CP and UP solutions exhibited the red shift toward higher wavelengths. Using excitation at 405 nm laser wavelength, fluorescence bands peaking at 601 nm and 655 nm of the acidic PP solution were observed. Conclusions: Violet LIF peaks of porphyrin solutions measured in vitro are similar to the wavelengths of a real carious lesion and fluorescence band peaks of natural teeth known from literature. However, the fluorescence of tested porphyrins does not completely explain the fluorescence spectra of dental caries and further studies are needed. pH seems to have an important influence on the light absorption and emission of porphyrins

Laser Induced Fluorescence of Carious Lesion Porphyrins

Svrha: U radu su predstavljeni preliminarni rezultati mjerenja laserski inducirane fluorescencije u nekoliko porfirinskih otopina. Koproporfirin i uroporfirin sastavni su dijelovi karijesnih lezija. Njihovo svojstvo fluorescencije pri obasjavanju svjetlom određene valne duljine može se uporabljati kao način detekcije karijesnih lezija. Materijali i postupci: U otopinama koproporfirina i dihidroklorida te uroporfirina i dihidroklorida s različitim pH-uvjetima izmjereni su apsorpcijski koeficijenti kako bi se identificirale spektralne regije za učinkovitu ekscitaciju laserima. Za indukciju fluorescencije odabrani su laseri s diskretnim valnim duljinama na 420 nm, 473 nm i 532 nm. Rezultati: Kod svih laserskih valnih duljina uočena je zanimljiva fluorescencijska emisija na 591 nm, 619 nm i 652 nm za koproporfirin i na 617 nm i 680 nm za uroporfirin. Zaključak: Kada se emisije svih porfirina međusobno kombiniraju, trebali bi odgovarati spektralnim strukturama koje se mogu naći u stvarnim karijesnim lezijama.Objectives: This paper reports the preliminary results of the measurements of laser induced fluorescence in several porphyrin solutions. Coproporphyrin and uroporphyrin are common constituents of carious lesions. Their property to exhibit fluorescence when irradiated with a light of certain wavelength could be used as a means to detect carious lesions. Materials and methods: Absorption coefficient measurements of coproporphyrin I dihydrochloride and uroporphyrin I dihydrochloride solutions were performed under different pH conditions in order to identify spectral regions for effective laser excitation. Lasers with discrete wavelengths at 420 nm, 473 nm and 532 nm were used for the induction of the fluorescence. Results: At all laser wavelengths interesting fluorescence bands peaking at 591 nm, 619 nm and 652 nm for coproporphyrin and at 617 nm and 680 nm for uroporphyrin were observed. Conclusions: When combined together all bands should correspond to the spectral band structures found in real carious lesions

Intramolecular hydrogen bonding in myricetin and myricitrin. Quantum chemical calculations and vibrational spectroscopy

The molecular structures of myricetin (3,3’,4’,5,5’,7-hexahydroxyflavone; MCE) and myricitrin (myricetin 3-O-rhamnoside; MCI) are investigated by quantum chemical calculations (B3LYP/6-311G**). Two preferred molecular rotamers of MCI are predicted, corresponding to different conformations of the O-rhamnoside subunit. The rotamers are characterized by different hydrogen bonded cross-links between the hydroxy groups of the rhamnoside substituent and the parent MCE moiety. The predicted OH stretching frequencies are compared with vibrational spectra of MCE and MCI recorded for the sake of this investigation (IR and Raman). In addition, a reassignment of the C=O stretching bands are suggested

Effects of hospital facilities on patient outcomes after cancer surgery: an international, prospective, observational study

© 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licenseBackground: Early death after cancer surgery is higher in low-income and middle-income countries (LMICs) compared with in high-income countries, yet the impact of facility characteristics on early postoperative outcomes is unknown. The aim of this study was to examine the association between hospital infrastructure, resource availability, and processes on early outcomes after cancer surgery worldwide. Methods: A multimethods analysis was performed as part of the GlobalSurg 3 study—a multicentre, international, prospective cohort study of patients who had surgery for breast, colorectal, or gastric cancer. The primary outcomes were 30-day mortality and 30-day major complication rates. Potentially beneficial hospital facilities were identified by variable selection to select those associated with 30-day mortality. Adjusted outcomes were determined using generalised estimating equations to account for patient characteristics and country-income group, with population stratification by hospital. Findings: Between April 1, 2018, and April 23, 2019, facility-level data were collected for 9685 patients across 238 hospitals in 66 countries (91 hospitals in 20 high-income countries; 57 hospitals in 19 upper-middle-income countries; and 90 hospitals in 27 low-income to lower-middle-income countries). The availability of five hospital facilities was inversely associated with mortality: ultrasound, CT scanner, critical care unit, opioid analgesia, and oncologist. After adjustment for case-mix and country income group, hospitals with three or fewer of these facilities (62 hospitals, 1294 patients) had higher mortality compared with those with four or five (adjusted odds ratio [OR] 3·85 [95% CI 2·58–5·75]; p<0·0001), with excess mortality predominantly explained by a limited capacity to rescue following the development of major complications (63·0% vs 82·7%; OR 0·35 [0·23–0·53]; p<0·0001). Across LMICs, improvements in hospital facilities would prevent one to three deaths for every 100 patients undergoing surgery for cancer. Interpretation: Hospitals with higher levels of infrastructure and resources have better outcomes after cancer surgery, independent of country income. Without urgent strengthening of hospital infrastructure and resources, the reductions in cancer-associated mortality associated with improved access will not be realised. Funding: National Institute for Health and Care Research