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Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
Get PDFNiemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites. However, the molecular basis diagnosis is still of utmost importance to fully characterize the disorder. Here, the authors provide an overview of splicing variants in the NPC1 and NPC2 genes and propose a new workflow for NPC diagnosis. Splicing variants cover a significant part of the disease-causing variants in NPC. The authors used cDNA analysis to study the impact of such variants, including the collection of data to classify them as leaky or non-leaky pathogenic variants. However, the presence of naturally occurring spliced transcripts can misdiagnose or mask a pathogenic variant and make the analysis even more difficult. Analysis of the NPC1 cDNA in NPC patients in parallel with controls is vital to assess and detect alternatively spliced forms. Moreover, nonsense-mediated mRNA decay (NMD) analysis plays an essential role in evaluating the naturally occurring transcripts during cDNA analysis and distinguishing them from other pathogenic variants' associated transcripts.info:eu-repo/semantics/publishedVersio
Anterior Penetrating Neck Injury: A Path to the Cervical Spine
Get PDFWhile rare in incidence, penetrating neck injuries are often life-threatening. When a patient's physiological status is appropriate, the first step in treatment should be a detailed preoperative imaging assessment. Formulating a treatment plan that includes computed tomography (CT) imaging and discussing the surgical approach with a multidisciplinary team before operating allows for a successful selective surgical approach. The authors report the case of a Zone II penetrating injury with a right laterocervical entry wound in which an impaled blade with an inferomedial oblique path pierced deeply into the cervical spine. The blade missed multiple vital structures in the neck, such as the common carotid artery, jugular vein, trachea, and esophagus. The patient underwent a formal neck exploration, and controlled extraction of the blade under direct vision was achieved. Therefore, the author's recommendation for implementing any management algorithm for penetrating neck injuries should rely primarily on a multidisciplinary selective approach.info:eu-repo/semantics/publishedVersio
Humeral Fracture in a Young CrossFit Practitioner
Get PDFCrossFit (CrossFit Inc, Washington, DC) is a recent, high-intensity strength and conditioning sport that is growing in popularity worldwide. Potential risks and injuries have been described in previous reports. Distal humeral fractures without direct trauma were related to sports like baseball or wrestling. However, they have never been reported in a CrossFit athlete. We present the first case of distal humeral fracture associated with a CrossFit workout, during a gymnastic movement. Our patient had no relevant medical history but the investigation revealed reduced vitamin D levels and low bone density. The patient was surgically treated and he completed the rehabilitation program. He returned to sports practice 12 weeks after the surgeryinfo:eu-repo/semantics/publishedVersio
The Caloric Necessities of Critical Care Patients During the First Week of Admission
Get PDFIntroduction: The nutritional needs of critically ill patients have been the subject of intense controversy. In accordance with international guidelines, it is advocated to optimize a nutritional intake based on the following recommendation: 25-30 kcal/kg body weight per day. However, there still are authors who recommend permissive underfeeding in the first week of hospitalization. Nevertheless, energy expenditure (EE) and necessity are influenced by the catabolic phase of critical illness, which may vary over time on a patient and from patient to patient.
Objective: The objective of this study is to assess if the energy needs of critically ill patients admitted in our intensive care unit (ICU) in the first week of hospitalization are in line with those recommended by the European Society for Clinical Nutrition and Metabolism (ESPEN) international guidelines.
Methods: A prospective cross-sectional study was carried out from September to December 2019. The energy needs were evaluated by indirect calorimetry and by the Harris-Benedict equation. Stress variables were evaluated, namely, the type of pathology, hemodynamic support, sedation, temperature, sequential organ failure assessment (SOFA) score, and state at discharge.
Results: Forty-six patients were included in this study, with an average energy expenditure by indirect calorimetry of 19.22 ± 4.67 kcal/kg/day. The energy expenditure was less than 20 kcal/kg/day in 63% of the measurements. The concordance rate did not show the relationship between the Harris-Benedict equation and the values of indirect calorimetry. Stress variables were analyzed, with the SOFA score as the only variable with values close to statistical significance.
Conclusion: In our ICU, the energy needs of critically ill patients in the first week of hospitalization are lower than the intake recommended by the guidelines.info:eu-repo/semantics/publishedVersio
A Challenge Called Ogilvie´s Syndrome
Get PDFOgilvie´s syndrome is a colonic dilation without any existing mechanical obstruction. The risk factors that cause it are not completely understood, but if untreated, the distension can result in rupture or ischaemic bowel perforation. Additionally, the existing guidelines do not agree with each other about the next steps if conservative treatment fails. We report the case of a 71-year-old woman in whom Ogilvie´s syndrome was particularly difficult to manage, and with it, we try to add clinical data to a field with scarce evidence.info:eu-repo/semantics/publishedVersio
Risk of Residual Neoplasia after a Local-Risk Resection of Colorectal Lesions by Endoscopic Submucosal Dissection: A Multinational Study
Get PDFEndoscopic submucosal dissection (ESD) in colorectal lesions is demanding, and a significant rate of non-curative procedures is expected. We aimed to assess the rate of residual lesion after a piecemeal ESD resection, or after an en bloc resection but with positive horizontal margins (local-risk resection-LocRR), for colorectal benign neoplasia. A retrospective multicenter analysis of consecutive colorectal ESDs was performed. Patients with LocRR ESDs for the treatment of benign colorectal lesions with at least one follow-up endoscopy were included. A cohort of en bloc resected lesions, with negative margins, was used as the control. A total of 2255 colorectal ESDs were reviewed; 352 of the ESDs were "non-curative". Among them, 209 were LocRR: 133 high-grade dysplasia and 76 low-grade dysplasia. Ten cases were excluded due to missing data. A total of 146 consecutive curative resections were retrieved for comparison. Compared to the "curative group", LocRRs were observed in lengthier procedures, with larger lesions, and in non-granular LSTs. Recurrence was higher in the LocRR group (16/199, 8% vs. 1/146, 0.7%; p = 0.002). However, statistical significance was lost when considering only en bloc resections with positive horizontal margins (p = 0.068). In conclusion, a higher rate of residual lesion was found after a piecemeal ESD resection, but not after an en bloc resection with positive horizontal margins.info:eu-repo/semantics/publishedVersio
Fibrosis of Peritoneal Membrane, Molecular Indicators of Aging and Frailty Unveil Vulnerable Patients in Long-Term Peritoneal Dialysis
Get PDFPeritoneal membrane status, clinical data and aging-related molecules were investigated as predictors of long-term peritoneal dialysis (PD) outcomes. A 5-year prospective study was conducted with the following endpoints: (a) PD failure and time until PD failure, (b) major cardiovascular event (MACE) and time until MACE. A total of 58 incident patients with peritoneal biopsy at study baseline were included. Peritoneal membrane histomorphology and aging-related indicators were assessed before the start of PD and investigated as predictors of study endpoints. Fibrosis of the peritoneal membrane was associated with MACE occurrence and earlier MACE, but not with the patient or membrane survival. Serum α-Klotho bellow 742 pg/mL was related to the submesothelial thickness of the peritoneal membrane. This cutoff stratified the patients according to the risk of MACE and time until MACE. Uremic levels of galectin-3 were associated with PD failure and time until PD failure. This work unveils peritoneal membrane fibrosis as a window to the vulnerability of the cardiovascular system, whose mechanisms and links to biological aging need to be better investigated. Galectin-3 and α-Klotho are putative tools to tailor patient management in this home-based renal replacement therapy.info:eu-repo/semantics/publishedVersio
Caracterização dos hábitos de brincar, sono e comportamento em crianças em idade pré-escolar
Get PDFIntroduction: Playing is a fundamental activity of childhood. The primary goal of this study was to characterize the playing habits of Portuguese children aged between three and five years old. The secondary goals were to investigate children’s sleeping habits, audiovisual media exposure, and behavior, as well as caregivers ́ perception of these.Material and methods: Observational study based on the application of an online questionnaire to parents and caregivers about children’s sociodemographic features, playing habits, exposure to screens, sleep, and behavior.Results: A total of 240 questionnaires were retrieved, 58.3% (n=140) of which regarding male children. Overall, 93.9% (n=225) of children attended or had previously attended kindergarten, 56.9% (n=137) practiced at least one extracurricular activity, 64.4% (n=155) played outdoors in most days, and 80.9% (n=194) played with their peers. Most caregivers (68.3%, n=164) daily played with their children, but 95% (n=228) would like to do it more often. Free play was preferred among children (64%, n=154). Most children (77.4%, n=186) had contacted with audiovisual media before the age of 18 months. Most caregivers (89.6%, n=215) considered that their children slept well, with 27.4% (n=66) acknowledging that they threw frequent tantrums and 21.3% (n=51) that they were impulsive or aggressive. Most caregivers recognized the importance of playing for children. Regarding sleep habits and behavior, lower focus in quiet activities (odds ratio [OR] 4.638, 95% confidence interval [CI] 1.902-11.314) and more regular tantrums (OR 2.317, 95% CI 1.022-5.250) were independent predictors of sleeping problems. Conclusion: Free playing, frequent outdoor playing, and playing with other children stood out as protective factors of children’s physical and mental health. However, inadequate screen exposure and schedule overload with structured activities represent concerns that should be addressed in Pediatric appointments. Family-centered playful learning should be encouraged.info:eu-repo/semantics/publishedVersio
Hemostatic spray as therapy for pancreatic stump bleeding after cephalic duodenopancreatectomy
Get PDFA 70-year-old man with a cholangiocarcinoma underwent a cephalic duodenopancreatectomy. On the 2nd postoperative day, he had hematemesis without hemodynamic instability. Upper endoscopy (EGD) revealed a massive clot at the pancreatic stump, suspected as the source of hemorrhage. After partial clot removal, no active bleeding was found and no therapy was performed. Pancreaticogastric and gastrojejunal anastomoses, as well as the efferent-limb, showed no suspicious lesions. Octreotide was initiated and heparin prophylaxis was temporarily stopped. Bleeding from pancreatic stump following pancreatoduodenectomy is a rare but a life-threatening condition. Conventional endoscopic therapies, including clip placement and cautery, are mostly ineffective and with high risk of pancreatitis. We report the second case of hemostatic powder as a safe and successful therapy in this scenario.info:eu-repo/semantics/publishedVersio
Lombalgia progressiva secundária a coleção epidural de líquor: uma complicação rara da punção lombar em adolescentes
Get PDFLumbar puncture is commonly performed in Pediatrics. Common complications include headache and mild pain at the puncture site. Uncommon complications after the procedure, such as epidural cerebrospinal fluid collection, have rarely been described in children and adolescents.
The authors present the clinical report of an adolescent with symptomatic epidural cerebrospinal fluid collection following a non-traumatic lumbar puncture.
Diagnosis (including magnetic resonance imaging findings), treatment, clinical course, and prognosis associated with epidural cerebrospinal fluid collection are reported.info:eu-repo/semantics/publishedVersio