Coronofrontal rhytidectomy: A new approach for the treatment of severe pseudoptosis and superior entropion in dogs.

PURPOSE: To describe the use of coronofrontal rhytidectomy (CFR) for the treatment of severe pseudoptosis and superior entropion in dogs, and to provide guidelines for the selection of surgical technique depending on presentation. METHODS: A review of medical records of dogs that underwent rhytidectomy from 2002 to 2023 was carried out, including signalment, clinical signs, type of rhytidectomy, concurrent surgical techniques, re-interventions, post-operative complications, follow-up time, and outcome. RESULTS: Twenty dogs with a median age of 5.1 years were included in this study. English Cocker Spaniel was the most common breed (8 dogs:40%) and males were overrepresented (13 dogs: 65%). Besides pseudoptosis and visual impairment (100%), the other most common clinical signs were entropion and/or ectropion (19 dogs: 95%), conjunctivitis (17 dogs: 85%), euryblepharon (12 dogs: 60%) and non-ulcerative keratitis (10 dogs: 50%). CFR was performed in 12 dogs (60%), frontal rhytidectomy in 5 (25%), coronal in 2 (10%), and modified shared in 1 (5%). Concurrent surgical techniques were performed in 17 dogs (85%), being lateral canthoplasty (13 dogs; 65%), and Celsus-Hotz (10 dogs; 50%) the most common. The median follow-up time was 115 days with no complications and good outcomes reported in all dogs. At last re-recheck, complete correction of the eyelid positioning was obtained in 92% (11/12) and 87.5% (7/8) of the cases that underwent CFR and other rhytidectomy techniques, respectively. CONCLUSION: CFR is an effective surgical treatment for severe pseudoptosis and superior entropion in dogs. The provided guidelines will assist in the selection of the most appropriate eyelid lifting technique.

Application of Engineered Nanomaterials as Nanocatalysts in Catalytic Ozonation: A Review.

Given the growing scarcity of water and the continuous increase in emerging pollutants detected in water bodies, there is an imperative need to develop new, more effective, and sustainable treatments for wastewater. Advanced oxidation processes (AOPs) are considered a competitive technology for water treatment. Specifically, ozonation has received notable attention as a promising approach for degrading organic pollutants in wastewater. However, different groups of pollutants are hardly degradable via single ozonation. With continuous development, it has been shown that using engineered nanomaterials as nanocatalysts in catalytic ozonation can increase efficiency by turning this process into a low-selective AOP for pollutant degradation. Nanocatalysts promote ozone decomposition and form active free radicals responsible for increasing the degradation and mineralization of pollutants. This work reviews the performances of different nanomaterials as homogeneous and heterogeneous nanocatalysts in catalytic ozonation. This review focuses on applying metal- and carbon-based engineered nanomaterials as nanocatalysts in catalytic ozonation and on identifying the main future directions for using this type of AOP toward wastewater treatment.

Do Acoustic Characteristics of Dysarthria in People With Parkinson's Disease Differ Across Languages?

PURPOSE: Cross-language studies suggest more similarities than differences in how dysarthria affects the speech of people with Parkinson's disease (PwPD) who speak different languages. In this study, we aimed to identify the relative contribution of acoustic variables to distinguish PwPD from controls who spoke varieties of two Romance languages, French and Portuguese. METHOD: This bi-national, cross-sectional, and case-controlled study included 129 PwPD and 124 healthy controls who spoke French or Portuguese. All participants underwent the same clinical examinations, voice/speech recordings, and self-assessment questionnaires. PwPD were evaluated off and on optimal medication. Inferential analyses included Disease (controls vs. PwPD) and Language (French vs. Portuguese) as factors, and random decision forest algorithms identified relevant acoustic variables able to distinguish participants: (a) by language (French vs. Portuguese) and (b) by clinical status (PwPD on and off medication vs. controls). RESULTS: French-speaking and Portuguese-speaking individuals were distinguished from each other with over 90% accuracy by five acoustic variables (the mean fundamental frequency and the shimmer of the sustained vowel /a/ production, the oral diadochokinesis performance index, the relative sound level pressure and the relative sound pressure level standard deviation of the text reading). A distinct set of parameters discriminated between controls and PwPD: for men, maximum phonation time and the oral diadochokinesis speech proportion were the most significant variables; for women, variables calculated from the oral diadochokinesis were the most discriminative. CONCLUSIONS: Acoustic variables related to phonation and voice quality distinguished between speakers of the two languages. Variables related to pneumophonic coordination and articulation rate were the more effective in distinguishing PwPD from controls. Thus, our research findings support that respiration and diadochokinesis tasks appear to be the most appropriate to pinpoint signs of dysarthria, which are largely homogeneous and language-universal. In contrast, identifying language-specific variables with the speech tasks and acoustic variables studied was less conclusive.

Differentiated Thyroid Cancer in Children and Adolescents: 12-year Experience in a Single Center

Objective: Differentiated thyroid cancer (DTC) is the most common pediatric endocrine cancer but studies are scarce. Latest recommendations advocate for an individualized risk-based approach to select patients for additional therapy. Lymphovascular invasion is not considered, despite being a well-known risk factor in the adult population. The aim of this study was to describe the outcomes of a cohort of DTC patients diagnosed at pediatric age and to evaluate the impact of lymphovascular invasion on the risk of persistence/recurrence. Methods: A retrospective study of patients diagnosed with DTC at pediatric age from 2010 to 2022 at a single center was performed. All patients had total thyroidectomy. Radioactive iodine therapy (RAI) was used in selected patients. The response to therapy and occurrence of persistent/recurrent disease were evaluated. Results: A total of 21 DTC were diagnosed, mostly papillary thyroid carcinoma (PTC) (81.0%, n=17). Six patients (28.6%) had nodal involvement and one (4.8%) had lung metastasis at the time of the diagnosis. Lymphovascular invasion was present in 11 patients (52.4%). After surgery, 13 patients (61.9%) underwent RAI. The mean follow-up time was 5.7±3.1 years. In total, 6 patients (31.6%) experienced persistent/recurrent disease during the follow-up time. Among PTC patients, persistent/recurrent disease was more frequent in the presence of lymphovascular invasion [55.6% (5/9) vs. 0.0% (0/6), p=0.031]. Conclusion: An individualized risk-based approach is recommended. Our study suggests that lymphovascular invasion may be associated with a higher risk of persistence/recurrence and should therefore be considered for decision making in children and adolescents with PTC.

Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency.

INTRODUCTION: 46,XX testicular disorder of sexual development (DSD) may present prenatally as a mismatch between phenotype and karyotype. Enlarged nuchal translucency is an abnormal sign of many disorders. We present a first trimester fetus with increased nuchal translucency that was later determined to be a 46,XX testicular DSD. CASE PRESENTATION: A first-trimester pregnancy ultrasound revealed enlarged nuchal translucency. Chorionic villous sampling documented a 46,XX karyotype. Subsequent ultrasounds identified male external genitalia. FISH analysis documented a SRY gene translocation. At birth, the infant had normal male internal and external genitalia. CONCLUSIONS: 46,XX testicular DSD may present in the first trimester with an enlarged nuchal translucency.

Digital flashcards and medical physiology performance: a dose-dependent effect.

Use of digital flashcards promotes active recall, spaced repetition, and self-assessment academic principles. This work explores the association and dose-dependent effect of this study method and locomotor (LP) and cardiovascular physiology (CP) grades. A single-faculty cohort study of medical LP and CP students was conducted, and 155 and 676 flashcards, respectively, were created through Moodle. An exploratory analysis examined three exam results (2019), and a confirmatory study used a fourth exam (2021) in another CP cohort. Of 685 students enrolled, 558 participated in the exploratory analysis: 319 (69%) for LP and 311 (84%) for CP, of which 203 LP and 267 CP students were flashcard users. Median grades were higher among flashcard users, and the number of cards reviewed was positively correlated with grades (r = 0.275 to 0.388 for LP and r = 0.239 to 0.432 for CP, P < 0.001). Multiple linear regression models confirmed a positive dose-dependent association between results and the number of flashcards studied: for every 100 LP cards reviewed, exam grades increased 0.44-0.75 on a 0-20 scale range (P < 0.001), and for every 1,000 CP flashcards, results raised 0.81-1.08 values (P < 0.05). These findings were confirmed in the 2021 CP cohort of 269 participants, of whom 67% were flashcard users. Digital flashcard revision has a consistent positive dose-dependent association on LP and CP grades.NEW & NOTEWORTHY Implementing flashcard-based strategies is a feasible way to promote active recall, spaced repetition, and self-assessment, and students are highly adherent to these initiatives. There is a positive dose-dependent association between the number of flashcards reviewed and physiology grades. These results are consistent across different physiology subjects, under different cohorts, over short and medium terms.

A prospective study on varicose veins surgery impact on systemic endothelial function evaluated by arterial brachial flow mediated dilation.

OBJECTIVES: Chronic venous disease (CVD) is a prevalent pathology, and endothelial dysfunction is recognized as a core of its physiopathology. Flow-mediated dilation (FMD) is one of the most widely used tests for evaluating endothelial function. The aim of this study is to evaluate the influence of varicose vein (VV) surgery on FMD. METHODS: A prospective study with patients with superficial CVD and saphenous incompetence on Doppler ultrasonography that were proposed for VV surgery. The FMD test was performed before and 6 months after the procedure. The operator performing the post-operative evaluation was blinded to the pre-operative result. RESULTS: A total of 42 patients were included in the analysis. The median pre-operative percent change of FMD was 4.20% (±1.30) and the post-operative was 4.56% (±1.25) (p = 0.819). CONCLUSIONS: Our findings do not corroborate the presence of an overall endothelial dysfunction prone to modulation by surgery. Nevertheless, further studies are needed to confirm our findings.

Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review

The coexistence of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and Turner syndrome (TS) is rare. We report on a 6-year-old Portuguese girl with mosaic TS [45,XO(39)/47,XXX(21)] presenting with premature pubarche at the age of 5 years. Laboratory findings showed elevated 17-hydroxyprogesterone, dehydroepiandrosterone sulfate, androstenedione and total testosterone, and her sex-determining region Y (SRY) was negative. CYP21A2 gene analysis revealed two mutations (c.[844G>T]; [CYP21A2del]), consistent with the non-classical form of CAH. Complete deletion of CYP21A2 allele occurred de novo. At 6 years and 4 months, she presented with accelerated growth velocity and hydrocortisone at a dose of 5 mg/m2/day was initiated. This case highlights the need to perform global examinations looking for virilization signs in TS patients' follow-ups. It also supports the reported genetic combination of TS and CAH. Therefore, CAH should be kept in mind in TS patients with SRY negative and virilization signs, even in the absence of short stature.

The Prevalence of Potentially Inappropriate Prescribing in Two Family Health Units in Portugal.

OBJECTIVE: Polypharmacy and potentially inappropriate prescribing (PIP) are growing concerns in the ageing population. They carry the risk of increasing adverse effects, medical interactions, and difficulties managing the medication. Few studies in Portugal evaluate the prevalence of polypharmacy and PIP in primary care. No previous studies in the primary care setting in Portugal have been conducted using the European Union (EU)(7)-PIM (potentially inappropriate medication) list tool. In this study, we aimed to estimate the prevalence of polypharmacy and PIP in two family health units in Portugal.  Methods: To answer this question, we enrolled a sample of 361 elderly patients from two family health units in a descriptive observational transversal study. We randomly selected patients, consulted their prescription records in the previous 12 months, and applied the EU(7)-PIM list tool, validated for the Portuguese population. The data was then analyzed using descriptive and inferential statistics and the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Version 24.0, Armonk, NY). RESULTS: Our results showed a prevalence of 79.8% of polypharmacy in the elderly population and 73.4% of PIP. These values are higher than predicted in the literature, but different screening tools have been used among papers. The mean number of prescribed drugs per patient was nine in one unit and seven in the other, and the mode was eleven per patient. The most identified PIP-associated drugs were proton pump inhibitors in 46.4% of the patients in one unit and 43.7% in the other. We also found a statistically significant higher prevalence of PIP and polypharmacy in females and patients over 75 years. CONCLUSION: From a prevalence perspective, we found higher-than-expected prevalences of PIP and polypharmacy in our population. Contributing factors might be a higher ageing index in the Portuguese population, modern practices using combination therapy, and the use of a screening tool that does not take into account the personal clinical history of patients. Further limitations involve only including patients with follow-up in the units studied. Even so, it suggests both PIP and polypharmacy as concerns to address, and we will strive to educate both health teams on PIP, polypharmacy, and deprescribing. We also emphasize the need to widen the study to other family health units.

Neuronal and non-neuronal scaling across brain regions within an intercross of domestic and wild chickens.

The allometric scaling of the brain size and neuron number across species has been extensively studied in recent years. With the exception of primates, parrots, and songbirds, larger brains have more neurons but relatively lower neuronal densities than smaller brains. Conversely, when considering within-population variability, it has been shown that mice with larger brains do not necessarily have more neurons but rather more neurons in the brain reflect higher neuronal density. To what extent this intraspecific allometric scaling pattern of the brain applies to individuals from other species remains to be explored. Here, we investigate the allometric relationships among the sizes of the body, brain, telencephalon, cerebellum, and optic tectum, and the numbers of neurons and non-neuronal cells of the telencephalon, cerebellum, and optic tectum across 66 individuals originated from an intercross between wild and domestic chickens. Our intercross of chickens generates a population with high variation in brain size, making it an excellent model to determine the allometric scaling of the brain within population. Our results show that larger chickens have larger brains with moderately more neurons and non-neuronal cells. Yet, absolute number of neurons and non-neuronal cells correlated strongly and positively with the density of neurons and non-neuronal cells, respectively. As previously shown in mice, this scaling pattern is in stark contrast with what has been found across different species. Our findings suggest that neuronal scaling rules across species are not a simple extension of the neuronal scaling rules that apply within a species, with important implications for the evolutionary developmental origins of brain diversity.

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period.

Summary: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis. There was rapid recovery after glucose administration. At age 4, she presented with tonic-clonic seizures, fever, and gastrointestinal symptoms and came to need support in an intensive care unit. Low serum cortisol was documented and hydrocortisone was initiated. After normalization of inflammatory parameters, the patient was discharged with hydrocortisone. The genetic investigation was requested and compound heterozygous mutations in TBX19 were detected. This is a rare case of presentation of TBX19 mutation outside the neonatal period and in the setting of acute disease, which presented a diagnostic challenge. Learning points: Congenital isolated adrenocorticotrophic hormone deficiency due to TBX19 mutation usually presents with neonatal hypoglycemia and prolonged cholestatic jaundice. An uneventful neonatal period, however, does not exclude the diagnosis as the disease may be asymptomatic at this stage. In the context of idiopathic hypoglycemia, even in the context of acute disease, hypocortisolism must always be excluded. Genetic evaluation should be performed in cases of congenital central hypocortisolism to allow proper counselling.

UV-Based Advanced Oxidation Processes of Remazol Brilliant Blue R Dye Catalyzed by Carbon Dots.

UV-based advanced oxidation processes (AOPs) (UV/H2O2 and UV/S2O82-) with a titanium(IV)-doped carbon dot, TiP-CD, as a catalyst were developed for the decomposition of Remazol Brilliant Blue R (Reactive Blue 19), an anthraquinone textile dye (at T = 25 °C and pH = 7). The Ti-CD, with marked catalytic UV properties, was successfully synthesized by the one-pot hydrothermal procedure, using L-cysteine as carbon precursor, ethylenediamine as nitrogen source, PEG (polyethylene glycol) as a capping agent, and titanium(IV) isopropoxide (precursor of TiO2 doping). Contrary to azo dyes (methyl orange, orange II sodium salt, and reactive black 5), which achieved complete degradation in a time interval less than 30 min in the developed AOP systems (UV/H2O2, UV/S2O82-, and UV/TiO2), the RBB-R showed relatively low degradation rates and low discoloration rate constants. In the presence of the catalyzer, the reaction rate significantly increased, and the pseudo-first-order rate constants for the RBB-R discoloration were UV/3.0 mM H2O2/TIP-CD-0.0330 min-1 and UV/1.02 mM S2O82-/TIP-CD-0.0345 min-1.

Autoimmune Primary Adrenal Insufficiency in Children

Objective: Primary adrenal insufficiency (PAI) is a rare condition in children, and is potentially life-threatening. The most common cause is congenital adrenal hyperplasia, and autoimmune etiology is the most frequent acquired cause in this age group. Symptoms are usually non-specific and, when suspected, investigation should include adrenocorticotropin hormone (ACTH) and morning serum cortisol measurement and, in some cases, a cosyntropin test to confirm the diagnosis. Prompt treatment is essential to prevent an adverse outcome. Methods: We retrospectively collected clinical and laboratory data from adrenal insufficiency due to autoimmune adrenalitis, observed from 2015 to 2020 in a pediatric endocrinology department of a tertiary care hospital. Results: Eight patients were identified, seven males and one female, with age at diagnosis between 14 and 17 years. The symptoms at presentation ranged from non-specific symptoms, such as chronic fatigue and weight loss, to a severe presentation, with altered mental status and seizures. The median duration of symptoms was 4.5 months. The diagnosis was confirmed by serum cortisol and plasma ACTH measurement and all were confirmed to have autoimmune etiology (positive anti-adrenal antibodies). At diagnosis, the most common laboratory abnormality was hyponatremia. All patients were treated with hydrocortisone and fludrocortisone. One patient presented with evidence of type 2 autoimmune polyglandular syndrome. Conclusion: PAI is a rare condition in the pediatric age group. Due to non-specific symptoms, a high index of suspicion is necessary to establish a prompt diagnosis. Once an autoimmune etiology is confirmed, it is important to initiate the appropriate treatment and search for signs and symptoms of other autoimmune diseases during follow-up.

Copper(II)-Doped Carbon Dots as Catalyst for Ozone Degradation of Textile Dyes.

A catalytic ozonation advanced oxidation process (AOP) with a copper(II)-doped carbon dot as catalyst, Cu-CD (using L-cysteine and polyethylene glycol (PEG) as precursors and passivation agents), was developed for textile wastewater treatment (T = 25 °C and pH = 7). Four dyes were analyzed­Methyl Orange (MO), Orange II sodium salt (O-II), Reactive Black 5 (RB-5) and Remazol Brilliant Blue R (RBB-R), as well as a real effluent from the dying and printing industry. The Cu-CD, with marked catalytic ozonation properties, was successfully synthesized by one-pot hydrothermal procedure with a size of 4.0 nm, a charge of −3.7 mV and a fluorescent quantum yield of 31%. The discoloration of the aqueous dye solutions followed an apparent first-order kinetics with the following rate constants (kap in min−1): MO, 0.210; O-II, 0.133; RB-5, 0.177; RBB-R, 0.086. In the presence of Cu-CD, the following apparent first-order rate constants were obtained (kapc in min−1) with the corresponding increase in the rate constant without catalyst (%Inc): MO, 1.184 (464%); O-II, 1.002 (653%); RB-5, 0.709 (301%); RBB-R, 0.230 (167%). The presence of sodium chloride (at a concentration of 50 g/L) resulted in a marked increase of the discoloration rate of the dye solution due to generation of other radicals, such as chlorine and chlorine oxide, resulting from the reaction of ozone and chloride. Taking into consideration that the real textile effluent under research has a high carbonate concentration (>356 mg/L), which inhibits ozone decomposition, the discoloration first-order rate constants without and with Cu-CD (kap = 0.0097 min−1 and kapc = 0.012 min−1 (%Inc = 24%), respectively) were relatively small. Apparently, the Cu-CD, the surface of which is covered by a soft and highly hydrated caramelized PEG coating, accelerates the ozone decomposition and dye adsorption, increasing its degradation.

Urrets-Zavalia syndrome following cataract surgery in dogs: A case series.

Background: In human medicine, Urrets-Zavalia syndrome (UZS) is a well-recognized but uncommon postoperative complication characterized by a fixed dilated pupil, accompanied by iris atrophy and glaucoma. Although it was originally reported in 1963 after penetrating keratoplasty surgery for keratoconus, it has been associated with various ophthalmic procedures such as cataract surgery. The condition has not been previously published in the veterinary literature. Case Description: Three client-owned diabetic dogs that developed UZS´s triad after cataract surgery are described. Despite uneventful phacoemulsification in the six eyes, five developed moderate-to-severe postoperative ocular hypertension. Although intraocular pressure (IOP) spikes were initially controlled, fixed dilated pupils accompanied by iris atrophy and chronic ocular hypertension were seen in the five affected eyes. Aggressive medical and surgical management maintained vision in three of those eyes. In one eye, uncontrolled IOP led to blindness. Conclusion: This is the first published description of UZS in dogs, occurring after phacoemulsification. Although no exact, demonstrable causative element could be determined, we believe that should be considered a triggering condition for this syndrome, as it directly affects the ocular blood flow autoregulation and intrinsic uveal tissue integrity. Until the contrary is proved, diabetes mellitus might be considered as a risk factor for developing this syndrome after cataract surgery in dogs.

Proportional Cerebellum Size Predicts Fear Habituation in Chickens.

The cerebellum has a highly conserved neural structure across species but varies widely in size. The wide variation in cerebellar size (both absolute and in proportion to the rest of the brain) among species and populations suggests that functional specialization is linked to its size. There is increasing recognition that the cerebellum contributes to cognitive processing and emotional control in addition to its role in motor coordination. However, to what extent cerebellum size reflects variation in these behavioral processes within species remains largely unknown. By using a unique intercross chicken population based on parental lines with high divergence in cerebellum size, we compared the behavior of individuals repeatedly exposed to the same fear test (emergence test) early in life and after sexual maturity (eight trials per age group) with proportional cerebellum size and cerebellum neural density. While proportional cerebellum size did not predict the initial fear response of the individuals (trial 1), it did increasingly predict adult individuals response as the trials progressed. Our results suggest that proportional cerebellum size does not necessarily predict an individual's fear response, but rather the habituation process to a fearful stimulus. Cerebellum neuronal density did not predict fear behavior in the individuals which suggests that these effects do not result from changes in neuronal density but due to other variables linked to proportional cerebellum size which might underlie fear habituation.

Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study.

OBJECTIVES: Polyglandular autoimmune syndromes (PAS) are characterized by the association of two or more autoimmune diseases (AID) and are classified into four types. PAS type 1 is more frequently manifested in childhood, but the prevalence of other PAS in children, less described in the literature, seems to be underestimated. METHODS: This study aimed to evaluate the prevalence of PAS in a selected pediatric population of 879 children with Diabetes mellitus type 1 (DM1), autoimmune thyroid disease (AITD), and Addison's disease (AD) followed in our hospital for 10 years and describe and classify the manifestations of different PAS. RESULTS: We diagnosed 35 children with PAS, most fulfilled criteria for PAS type 3 (65.7%), and AITD was the AID more frequently detected (74.3%). PAS type 1 was not diagnosed in our sample. Patients with PAS manifested DM1 and AITD at a younger age than children with monoglandular pathology (7.7 vs. 9.3 years, p=0.04 and 7.7 vs. 13.1 years, p<0.01). CONCLUSIONS: This is the first study that analyzes the prevalence of different types of PAS in a pediatric population followed by endocrine pathologies, namely DM1, AD, and AITD. As PAS manifestations are often preceded by a long latency period characterized by the presence of autoantibodies, we reinforce the need to value these markers for timely diagnosis and to screen PAS in patients with AD throughout their lives.

Effect of ultra-rapid insulin aspart on glycemic control in children with type 1 diabetes: the experience of a Portuguese tertiary centre.

Background: Postprandial hyperglycemia is one of the biggest challenges in children with type 1 diabetes (T1D). Ultra-fast-acting aspartic insulin (faster aspart) has a quicker onset of action and an earlier maximum activity. The aim of this study is to analyze the impact of faster aspart in metabolic control of pediatric patients with T1D in a "real-world" setting. Methods: Retrospective analysis of 60 pediatric patients with T1D who changed their insulin analogue to faster aspart. Anthropometric data, insulin doses, capillary and interstitial glucose recordings and average glycated hemoglobin before and after insulin analogue's switch were obtained. After all population analyses, patients were analyzed separately according to the type of treatment, multiple daily injections (MDI) and continuous subcutaneous insulin infusion (CSII), and according to age group. Results: Faster aspart significantly improved metabolic control, increasing time in range (TIR) (42 vs.54%, respectively; P = 0.007) and decreasing time above range (TAR) (52 vs.40%, respectively; P = 0.009), without an increased time in hypoglycemia (7% before and after faster aspart's introduction; P = 0.933). This was reassured in the adolescent years (n = 45), with an increase in TIR (37 vs. 47%, respectively; P = 0.034) and decrease in TAR (51 vs. 45%, respectively; P = 0.022). Patients on CSII (n = 47), also demonstrated an increase in TIR (38 vs. 50%, respectively; P = 0.010). The reduction of A1c was not statistically significant. Conclusion: Although the advantage of faster aspart had already been demonstrated in pediatric patients under MDI, "real-world" studies, including patients under CSII, are still lacking. This study highlights the important impact of faster aspart on metabolic control in children with T1D, particularly among adolescents under CSII.

Ketoacidosis in new-onset type 1 diabetes: did the severity increase during the COVID-19 pandemic?

OBJECTIVES: Since the beginning of the COVID-19 pandemic, there has been a consistent decrease in the number of admissions to the emergency department, leading to a delay in the diagnosis of several pathologies. The time from onset of symptoms to the diagnosis of Type 1 diabetes is highly variable. This treatment delay can lead to the appearance of ketoacidosis. METHODS: Retrospective study of inaugural Type 1 diabetes cases, from March 2016 to March 2021. The pandemic group was considered between March 2020 to March 2021, and the remaining period was considered as pre-pandemic. Clinical variables were analysed: duration of symptoms, weight loss and value of ketonemia and glycated haemoglobin on admission. The mean differences were considered statistically significant at p<0.05. RESULTS: 103 inaugural episodes of Type 1 diabetes were registered. The pandemic group had a lower mean age when compared to pre-pandemic group, and 51.7% of the episodes had ketoacidosis with a higher relative risk of ketoacidosis and severe ketoacidosis, when compared the pandemic with pre-pandemic group, there was a longer symptom evolution time (34 vs. 20 days), greater weight loss occurred (9.5% vs. 6.3%), the pH and HCO3 - values were lower (7.30 vs. 7.36 and 16.43 vs. 20.71 mmol/L respectively) and ketonemia was higher (5.9 vs. 2.3 mmol/L). CONCLUSIONS: The COVID-19 pandemic caused a delay in the diagnosis of Type 1 diabetes, greater length of disease, greater weight loss, higher ketonemia and lower pH and HCO3 -. There was greater ketoacidosis relative risk in pandemic group when compared to pre-pandemic group.

A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy.

SUMMARY: Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D. We report a case of hypoparathyroidism in an adolescent affected by syncope without prodrome. The genetic testing revealed a variant in the CASR gene. Due to standard therapy ineffectiveness, the patient was treated with recombinant human parathyroid hormone (1-34), magnesium aspartate and calcitriol. He remained asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to achieve clinical stability. LEARNING POINTS: Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. The variant c.368T>C (p.Leu123Ser) in heterozygosity in the CASR gene is likely pathogenic and suggests the diagnosis of ADH type 1. Teriparatide (recombinant human parathyroid hormone 1-34) may be a valid treatment option to achieve clinical stability for those individuals whose condition is poorly controlled by current standard therapy.