Efficacy and Safety of Glucagon-Like Peptide 1 Agonists in a Retrospective Study of Patients With Familial Partial Lipodystrophy.

OBJECTIVE: Glucagon-like peptide 1 receptor agonists (GLP-1RA) are widely used for the management of diabetes mellitus (DM), but their efficacy in familial partial lipodystrophy (FPLD) is unknown. In this retrospective study, we evaluated the effect of GLP-1RA in patients with FPLD. RESEARCH DESIGN AND METHODS: We analyzed data, reported with SDs, from 14 patients with FPLD (aged 58 ± 12 years; 76.47% female) and 14 patients with type 2 DM (aged 58 ± 13 years; 71% female) before and 6 months after starting GLP-1RA. RESULTS: We observed reduction in weight (95 ± 23 to 91 ± 22 kg; P = 0.002), BMI (33 ± 6 to 31 ± 6 kg/m2; P = 0.001), HbA1c (8.2% ± 1.4% to 7.7% ± 1.4%; P = 0.02), and fasting glucose (186 ± 64 to 166 ± 53 mg/dL; P = 0.04) in patients with FPLD. The change in triglycerides after treatment was greater in the FPLD group compared with the DM group (P = 0.02). We noted acute pancreatitis in two case subjects with FPLD with longer therapy. CONCLUSIONS: Our study demonstrates the relative safety and effectiveness of GLP-1RA in patients with FPLD.

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

CONTEXT: Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired disorders characterized by generalized or partial loss of adipose tissue. LMNA-related lipodystrophy syndromes are classified based on the severity and distribution of adipose tissue loss. OBJECTIVE: We aimed to annotate all clinical and metabolic features of patients with lipodystrophy syndromes carrying pathogenic LMNA variants and assess potential genotype-phenotype relationships. METHODS: We retrospectively reviewed and analyzed all our cases (n = 115) and all published cases (n = 379) curated from 94 studies in the literature. RESULTS: The study included 494 patients. The most common variants in our study, R482Q and R482W, were associated with similar metabolic characteristics and complications though those with the R482W variant were younger (aged 33 [24] years vs 44 [25] years; P < .001), had an earlier diabetes diagnosis (aged 27 [18] vs 40 [17] years; P < .001) and had lower body mass index levels (24 [5] vs 25 [4]; P = .037). Dyslipidemia was the earliest biochemical evidence described in 83% of all patients at a median age of 26 (10) years, while diabetes was reported in 61% of cases. Among 39 patients with an episode of acute pancreatitis, the median age at acute pancreatitis diagnosis was 20 (17) years. Patients who were reported to have diabetes had 3.2 times, while those with hypertriglyceridemia had 12.0 times, the odds of having pancreatitis compared to those who did not. CONCLUSION: This study reports the largest number of patients with LMNA-related lipodystrophy syndromes to date. Our report helps to quantify the prevalence of the known and rare complications associated with different phenotypes and serves as a comprehensive catalog of all known cases.

Fostering regulatory processes using computational scaffolding.

The use of computational scaffolding is a crucial strategy to foster students' regulation of learning skills, which is associated with increased learning achievement. However, most interventions treat the regulatory processes as individual actions isolated from a social context. This view contradicts the most recent research that points to the importance of studying the regulatory phenomenon from a social-cognitive perspective, where students' interactions influence their regulation of the learning process. This work explores these problems and presents multiple scaffolds to promote Self-regulation of Learning (SRL), co-regulation, and socially shared regulation of learning (SSRL) embedded within a computer-supported collaborative learning environment. A single-blind randomized controlled trial was performed with students (n = 71) enrolled in an online introductory programming course. Students were randomly assigned to three groups: 1) SRL-only support, 2) SRL, co-regulation, and SSRL support, and 3) a no support control group. The findings revealed that students who received regulatory support achieved higher course grades than the control group. However, only students who received SSRL and co-regulation support achieved superior performance in collaborative activities, confirming the importance of this type of regulation. Even though students did not increase in SRL aptitude, the intervention provided support for achieving higher grades in the course.

Antinociceptive Effect of a Sacro-Coccygeal Epidural of Morphine and Lidocaine in Cats Undergoing Ovariohysterectomy.

BACKGROUND: A commonly described analgesic protocol for ovariohysterectomy (OHE) combines systemic opioids, sedatives, and non-steroidal anti-inflammatory drugs. However, systemic analgesia does not fully prevent perioperative visceral and somatic pain triggered by the surgical stimulus. OBJECTIVES: To compare the analgesic effects and quality of recovery of systemic analgesia with those of a sacrococcygeal epidural injection of lidocaine and morphine in cats undergoing elective OHE. Methods: Twenty domestic female cats were premedicated with dexmedetomidine (0.01 mg kg-1 IM) and alfaxalone (1.5 mg kg-1 IM) and randomly assigned to one of two analgesic protocols: methadone (0.2 mg kg-1 IM) in the control group CTR (n = 10) and methadone (0.1 mg kg-1 IM) + epidural (lidocaine 2% (0.3 mL kg-1) + morphine 1% (0.1 mg kg-1) diluted with NaCl 0.9% to a total volume of 1.5 mL in the SCC-E group (n = 10). General anaesthesia was induced with alfaxalone (1 mg kg-1 IV) and maintained with sevoflurane in 100% oxygen. Non-invasive blood arterial pressure and cardiorespiratory variables were recorded. The quality of recovery was assessed using a simple descriptive scale. Before surgery and 1, 2, 3, 4, 6, and 8 h post-op pain was assessed using the UNESP-Botucatu multidimensional composite pain scale (MCPS) and mechanical nociception thresholds (MNT). The repeated measures analysis of variance (ANOVA) was used to compare groups over time. Comparison between groups was performed using independent samples t-test if the assumption of normality was verified, or the Mann-Whitney test. The chi-square test of independence and exact Fisher's test were used to compare groups according to recovery quality. RESULTS: Heart rate and systolic arterial pressure increased significantly from baseline values in the CTR group and did not change in the SCC-E group. In the CTR group, MNT and UNESP-Botucatu-MCPS scores increased significantly from baseline for all assessment points and the first 3 h, respectively, whereas this did not occur in the SCC-E group. CONCLUSIONS AND CLINICAL RELEVANCE: Based on our results, the SCC-E administration of lidocaine 2% with morphine 1% is a reasonable option to provide perioperative analgesia in cats submitted to OHE, compared to a systemic protocol alone.

Transient skin and fur color change after trichotomy of the sacrococcygeal region for epidural anesthesia in a domestic cat (Felis catus) / Mudança transitória da cor da pele e pelo após tricotomia da região sacrococcígea para anestesia epidural em gata doméstica (Felis catus)

A clinical case in which skin and hair color change occurred after sacrococcygeal epidural anesthesia in a nine-month-old Siamese cross queen undergoing ovariohysterectomy (OHE) is described. Six weeks after surgery, during a re-check, it was noted that in the sacrococcygeal region the color of the skin and new hair growth was dark with a color comparable to the color present on the body extremities (muzzle, pinnae, legs, and tail). The skin and new hair growth of the shaved abdomen presented a standard color. The key enzyme of the melanogenic pathway in mammals is tyrosinase (TYR), and the Siamese temperature-sensitive phenotype is the result of genetic mutations that makes TYR function thermolabile. The activity of TYR in these cats is limited to the extremities where the temperature is lower while pigment production is impaired in the other body areas. The trichotomy of the sacrococcygeal region performed during wintertime in an outdoor cat was probably the trigger for increased activity of TYR in this area promoting pigment production. The absence of the same alterations in the abdominal area may be justified by less exposure of that region to the external environment, as well as to the feline habits of sedentarism, that avoid significant cooling in these regions. This report highlights the importance of taking this type of occurrence into account when performing an epidural in the Siamese cat breed. Also, to avoid skin color change in this breed, the authors recommend a midline abdominal instead of a flank approach to perform OHE.(AU)

Descreve-se um caso clínico no qual ocorreu mudança na cor da pele e do pelo após anestesia epidural sacrococcígea numa gata cruzada de raça Siamês de nove meses submetida à ovariohisterectomia (OVH). Seis semanas após a cirurgia, durante uma avaliação pós-operatória, notou-se que na região sacrococcígea, a cor da pele e o crescimento do pelo apresentavam uma cor escura, comparável à das extremidades do corpo (face, orelhas, membros e cauda). A pele e o crescimento do pelo do abdómen, que também havia sido tosquiado, apresentavam uma cor padrão. A enzima chave da via melanogênica em mamíferos é a tirosinase (TYR) e o fenótipo siamês sensível à temperatura é o resultado de mutações genéticas que tornam a função TYR termolábil. A atividade da TYR nestes gatos é limitada às extremidades onde a temperatura é mais baixa, enquanto a produção de pigmento é prejudicada em outras áreas do corpo. A tricotomia da região sacrococcígea realizada durante o inverno nesta gata com acesso livre ao ambiente externo, provavelmente determinou um aumento da atividade da TYR nesta área, promovendo a produção de pigmento. A ausência das mesmas alterações na região abdominal pode ser justificada pela menor exposição desta área do corpo ao ambiente externo, também devido aos hábitos felinos de sedentarismo, que evitam resfriamento significativo nestas regiões. Este relato destaca a importância de se levar em consideração a possibilidade deste tipo de ocorrência quando da realização de uma anestesia epidural nesta raça de gatos. Além disso, os autores recomendam uma abordagem abdominal na linha média ao invés de uma abordagem de flanco para realizar a OVH nesta raça, a fim de evitar a alteração da cor da pele.(AU)

Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect.

Aplasia cutis congenita is a disease in which skin, bone, and dura mater can be absent. In majority of the cases it affects the scalp. We report a baby girl born at term with a large scalp and skull defect measuring 9 × 10 cm. Conservative treatment led to complete epithelization.

Anophtalmia y microftalmia: caso clínico con el diagnóstico prenatal / Anophthalmia and microphthalmia: A clinical case with a prenatal diagnosis

Introduction: Anophthalmia and microphthalmia are serious eye malformations that describe, respectively, the absence of an eye and the presence of a small eye within the orbit. These conditions are the most frequent congenital eye malformations in the newborn, and the precise aetiology remains unknown, but they may occur in isolation or as part of a syndrome, with chromosomal, monogenic and environmental causes already identified. The pre- and post-natal diagnosis can be made using imaging techniques and genetic analysis. The authors present a clinical case diagnosed prenatally. Case report: A 35 year-old primiparous woman, with normal first trimester examinations and karyotype 46,XX, in whom the ultrasound at 18/23 weeks revealed an asymmetry of ocular globes, with a small diameter of the left orbit. This study was complemented with foetal magnetic resonance that confirmed a severe microphthalmia in the left eye, with difficulty in observing the integrity of the optic nerve. The interruption of the pregnancy was discussed, but the parents did not want this. The remaining routine examinations were normal. The pregnancy was terminated at 37 weeks, palpebral closure with absence of ocular globe of the left eye and opacification of cornea and microphthalmia in the right eye was confirmed. Conclusion: This case shows that a difficult diagnosis of a rare pathology can be made in utero by ultrasound. However, some are impossible to diagnosis, and this must be explained to parents (AU)

Introducción: Anophtalmia y microftalmia son malformaciones graves en los ojos que describen, respectivamente, la ausencia de un ojo y de la presencia de un ojo pequeño dentro de la órbita. Estas condiciones son la malformación ocular congénita más frecuente en el recién nacido, y la etiología exacta se desconoce, pero pueden ocurrir en forma aislada o como parte de un síndrome, con chromossomal, monogénica y las causas ambientales ya identificados. Los autores presentan un caso clínico diagnosticado prenatalmente. Reporte de un caso: Primípara, de 35 años, con exámenes trimestrales primero normales y cariotipo 46, XX. En 18/23 semanas, la ecografía reveló una asimetría de los globos oculares, con un pequeño diámetro en órbita izquierda. Este estudio se complementa con resonancias magnética foetal, que confirmó una microftalmia severa de la izquierda con dificultad en la observación de la integridad del nervio óptico. Nesse momento se discutió la interrupción del embarazo, pero los padres no aceptó. Los restantes exámenes de rutina fueron normales. El embarazo se dio por terminada a las 37 semanas, y se confirmó el cierre palpebral con la ausencia de globo ocular a la izquierda y la opacificación de la córnea y microftalmia en el ojo derecho. Conclusión: Este caso demuestra que un diagnóstico difícil de una patología poco frecuente, se puede hacer en el útero por ecografía. Sin embargo, algunos son imposibles de diagnóstico y esto debe ser explicado a los padres (AU)

Depth profile characterization of Zn-TiO2 nanocomposite films by pulsed radiofrequency glow discharge-optical emission spectrometry.

In recent years particular effort is being devoted towards the development of radiofrequency (rf) pulsed glow discharges (GDs) coupled to optical emission spectrometry (OES) for depth profile analysis of materials with technological interest. In this work, pulsed rf-GD-OES is investigated for the fast and sensitive depth characterization of Zn-TiO(2) nanocomposite films deposited on conductive substrates (Ti and steel). The first part of this work focuses on assessing the advantages of pulsed GDs, in comparison with the continuous GD, in terms of analytical emission intensities and emission yields. Next, the capability of pulsed rf-GD-OES for determination of thickness and compositional depth profiles is demonstrated by resorting to a simple multi-matrix calibration procedure. A rf forward power of 75 W, a pressure of 600 Pa, 10 kHz pulse frequency and 50% duty cycle were selected as GD operation parameters.Quantitative depth profiles obtained with the GD proposed methodology for Zn-TiO(2) nanocomposite films, prepared by the occlusion electrodeposition method using pulsed reverse current electrolysis, have proved to be in good agreement with results achieved by complementary techniques, including scanning electron microscopy and inductively coupled plasma-mass spectrometry. The work carried out demonstrates that pulsed rf-GD-OES is a promising tool for the fast analytical characterization of nanocomposite films.