Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.

INTRODUCTION: CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine. Majority of reported cases have an early onset during infancy, with some few starting later in childhood. CASE REPORT: Here we report a deceased female patient with CAD deficiency whose epilepsy started at 14 years. She showed a rapid neurologic deterioration including cognitive decline, electroencephalographic background slowing which later evolved to a fatal refractory SE and supra and infratentorial atrophy on neuroimaging. Anemia developed after SE onset. METHODS AND RESULTS: her post-mortem whole exome sequencing identified biallelic missense variants in CAD (NM_004341.5): c.[2944G > A];[5366G > A] p.[(Asp982Asn)];[(Arg1789Gln)]. Our review of twenty-eight reported cases (2015-2023) revealed an epilepsy age onset from neonatal period to 7 years and the SE prevalence of 46 %. DISCUSSION: With our case, we highlight the relevance of suspecting this treatable condition in older patients and in SE with no evident etiology.

Clinical Comparative Study of Shade Measurement Using Two Methods: Dental Guides and Spectrophotometry.

Tooth color is a determining factor in the fabrication of dental prostheses. The aim of the present study is to compare two measurement methods used in the field of dentistry: dental guides and spectrophotometry. A total of 2768 natural teeth were measured using the Vita Classical and Vita 3D-Master dental guides (Vita-Zahnfabrik, Bad Säckingen, Germany), as well as a Vita Easyshade Compact spectrophotometer (Vita-Zahnfabrik). The measurements were carried out by one operator under suitable illumination conditions at 5500 degrees Kelvin. The obtained results show that the measurements obtained with the Vita Classical dental guide classifies teeth into the A-B categories, while the spectrophotometer preferentially classifies teeth into the B-C categories. The correlation coefficients obtained with the dental guides ranged from -0.32 to -0.39 (p < 0.01), while those for the spectrophotometer ranged from -0.35 to -0.55 (p < 0.01). Therefore, we can conclude that the spectrophotometer is more reliable and reproducible in its measurements than the dental guides.

Oral Rehabilitation as Part of a Multidisciplinary Treatment in a Case Study of Pigmentary Incontinence.

We present the clinical course of a 9-year-old female patient with Bloch-Sulzberger syndrome and severe neurological deficit that met the major (classic cutaneous signs) and minor (dental anomalies and retinal pathology) diagnostic criteria of Landy and Donnai. Longitudinal multidisciplinary follow-up was carried out from birth to adulthood. Neurological involvement was assessed with electroencephalographic (EEG) and neuroimaging tests at different times during the patient's life. Cranio-maxillofacial involvement was evaluated using lateral skeletal facial and cephalometric analyses. The right and left facial widths were measured through frontal face analysis and using the vertical zygomatic-midline distance. Oral rehabilitation was performed through orthodontic treatment and major dental reconstruction using composite resins. This treatment aimed to improve the occlusion and masticatory function, relieve the transversal compression of the maxilla, and reconstruct the fractured teeth. We believe that, due to significant neurological and cognitive impairment, orthognathic surgery was not the best option for restoring function and improving oral health-related quality of life.

Subchronic co-exposure to particulate matter and fructose-rich-diet induces insulin resistance in male Sprague Dawley rats.

Insulin resistance (IR) and metabolic disorders are non-pulmonary adverse effects induced by fine particulate matter (PM2.5) exposure. The worldwide pandemic of high fructose sweeteners and fat rich modern diets, also contribute to IR development. We investigated some of the underlying effects of IR, altered biochemical insulin action and Insulin/AKT pathway biomarkers. Male Sprague Dawley rats were subchronically exposed to filtered air, PM2.5, a fructose rich diet (FRD), or PM2.5 + FRD. Exposure to PM2.5 or FRD alone did not induce metabolic changes. However, PM2.5 + FRD induced leptin release, systemic hyperinsulinemia, and Insulin/AKT dysregulation in insulin-sensitive tissues preceded by altered AT1R levels. Histological damage and increased HOMA-IR were also observed from PM2.5 + FRD co-exposure. Our results indicate that the concomitant exposure to a ubiquitous environmental pollutant, such as PM2.5, and a metabolic disease risk factor, a FRD, can contribute to the metabolic disorder pandemic occurring in highly polluted locations.

Outdoor and indoor benzene evaluation by GC-FID and GC-MS/MS.

The evaluation of benzene in different environments such as indoor (with and without tobacco smoke), a city area, countryside, gas stations and near exhaust pipes from cars running on different types of fuels was performed. The samples were analyzed using gas chromatography (GC) with flame ionization detection (FID) and tandem mass spectrometric detection (MS/MS) (to confirm the identification of benzene in the air samples). Operating conditions for the GC-MS analysis were optimized as well as the sampling and sample preparation. The results obtained in this work indicate that i) the type of fuel directly influences the benzene concentration in the air. Gasoline with additives provided the highest amount of benzene followed by unleaded gasoline and diesel; ii) the benzene concentration in the gas station was always higher than the advisable limit established by law (5 µg m⁻³) and during the unloading of gasoline the achieved concentration was 8371 µg m⁻³; iii) the data from the countryside (Taliscas) and the urban city (Matosinhos) were below 5 µg m⁻³ except 5 days after a fire on a petroleum refinery plant located near the city; iv) it was proven that in coffee shops where smoking is allowed the benzene concentration is higher (6 µg m⁻³) than in coffee shops where this is forbidden (4 µg m⁻³). This method may also be helpful for environmental analytical chemists who use GC-MS/MS for the confirmation or/and quantification of benzene.

Evaluating the Lipid Quality of Yellowfin Tuna (Thunnus albacares) Harvested from Different Oceans by Their Fatty Acid Signatures.

The aim of this study was to evaluate the influence of the fishing location on yellowfin tuna's (YFT; Thunnus albacares) white muscle total lipid (TL) content and fatty acid profile. The comparison included 45 YFT loins, equally divided between the Atlantic, Indian and Pacific Oceans. The ocean had no significant influence on YFT TL content, total PUFA and total n-3 PUFA (p > 0.05), averaging 1.09 g/100 g of muscle, 229.2 and 192.8 mg/100 g of muscle, respectively. On the other hand, the YFT harvested on the Indian Ocean displayed significantly higher contents of both SFA and MUFA totals than the Atlantic Ocean counterparts (p < 0.05), while the YFT harvested in the Pacific Ocean presented intermediate values, not differing significantly from the other two origins. The YFT from the Indian and Pacific oceans held twice the n-6 PUFA content recorded in the Atlantic YFT (44.1 versus 21.1 mg/100 g of muscle). Considering the recommended daily intake of EPA plus DHA is 250 mg, the consumption of 100 g of YFT from the Atlantic, Indian and Pacific Oceans would provide 149.2 mg, 191.8 mg or 229.6 mg of EPA plus DHA, representing 59.7%, 76.7% or 91.8% of the recommended daily intake, respectively.

Parche de sangre epidural torácico, de alto volumen, para el tratamiento del Síndrome de Hipotensión Intracraneana Espontánea secundario a fuga cervical de líquido cefalorraquídeo, ¿mejora el período asintomático?. Reporte de caso / High blood volume thoracic epidural patch for the treatment of spontaneous intracranial hypotension syndrome due to cervical cerebrospinal fluid leak, It prolongs the asymptomatic period?. A case report

Mujer de 50 años, con historia de 3 semanas de cefalea ortostática progresiva y síntomas neurológicos inespecíficos, confirmándose higroma subdural a nivel C5 con fuga de líquido cefalorraquídeo compatible con Síndrome de Hipotensión Intracraneal Espontánea (SHIE). Tratamiento médico inicial sin respuesta. Se realiza parche sanguíneo epidural (PSE) a nivel torácico con 20 ml de sangre directo a través de trocar epidural, observándose respuesta terapéutica completa en seguimiento hasta 8 meses. Creemos que un PSE torácico ofrece las ventajas de uno cervical y lumbar y, por lo tanto, debe considerarse una alternativa terapéutica eficaz en este síndrome especialmente en pacientes anatómicamente complejos.

A 50-year-old woman, with a history of three-week orthostatic headache and nonspecific neurological symptoms, has a subdural hygroma at C5 level with a cerebrospinal fluid leakage compatible with Spontaneous Intracranial Hypotension Syndrome (SIHS). Initial conservative treatment has no response. A thoracic epidural blood patch (EBP) is performed, with a 20ml blood volume spread through an epidural needle, with a complete therapeutic response up-to 8 months. We believe that a higher blood volume patch through a thoracic approach gives the advantages of cervical and lumbar EBP, and, therefore, should be considered as a therapeutic alternative especially in technical anatomically difficult patients.