scholarly journals Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications—A Retrospective Analysis of 99 Patients

2021 ◽  
Vol 10 (16) ◽  
pp. 3518
Author(s):  
Luise Sophie Ammer ◽  
Thorsten Dohrmann ◽  
Nicole Maria Muschol ◽  
Annika Lang ◽  
Sandra Rafaela Breyer ◽  
...  

Patients with mucopolysaccharidoses (MPS) frequently require anaesthesia for diagnostic or surgical interventions and thereby experience high morbidity. This study aimed to develop a multivariable prediction model for anaesthesia-related complications in MPS. This two-centred study was performed by retrospective chart review of children and adults with MPS undergoing anaesthesia from 2002 until 2018. We retrieved the patients’ demographics, medical history, clinical manifestations, and indication by each anaesthesia. Multivariable mixed-effects logistic regression was calculated for a clinical model based on preoperative predictors preselected by lasso regression and another model based on disease subtypes only. Of the 484 anaesthesia cases in 99 patients, 22.7% experienced at least one adverse event. The clinical model resulted in a better forecast performance than the subtype-model (AICc 460.4 vs. 467.7). The most relevant predictors were hepatosplenomegaly (OR 3.10, CI 1.54–6.26), immobility (OR 3.80, CI 0.98–14.73), and planned major surgery (OR 6.64, CI 2.25–19.55), while disease-specific therapies, i.e., haematopoietic stem cell transplantation (OR 0.45, CI 0.20–1.03), produced a protective effect. Anaesthetic complications can best be predicted by surrogates for advanced disease stages and protective therapeutic factors. Further model validation in different cohorts is needed.

2019 ◽  
Vol 12 (8) ◽  
pp. e229903 ◽  
Author(s):  
Anna McKeever ◽  
Amanda Cox ◽  
Matthew Garnett ◽  
Nicholas G Cunniffe

Sarcoidosis is a multisystem disorder, characterised histologically by the presence of non-caseating epithelioid granulomas with exclusion of other granulomatous diseases. While the lungs and lymph nodes are affected in 90%, approximately 5% of patients have neurological involvement. The clinical manifestations of neurosarcoidosis (NS) are diverse, making diagnosis especially difficult in patients without known systemic disease. Hydrocephalus occurs in only 9% of patients with NS and although uncommon, is an important manifestation because it is associated with high morbidity and mortality. We report two cases of NS presenting with hydrocephalus, one as the first presentation of sarcoidosis and one in a patient with known multisystem sarcoidosis. The patient without systemic sarcoidosis posed the greater diagnostic challenge and followed a protracted course with multiple surgical interventions, progression of central nervous system inflammation and significant physical disability.


2020 ◽  
pp. 51-56
Author(s):  
V.М. Аntonyuk-Kysil ◽  
◽  
І.Y. Dziubanovskyi ◽  
V.М. Yenikeeva ◽  
S.І. Lichner ◽  
...  

The objective: to evaluate the results of planned open surgical interventions (POSI) in pregnant women with primary symptomatic chronic vein disease (PSCVD). Materials and methods. The study included 457 pregnant women operated on a routine basis with PSCVD. The patients underwent ultrasound duplex angioscanning (USDA) of the veins of the lower extremities, inguinal canals, and iliac veins. The severity of the clinical manifestations of PSCVD was evaluated on a VCSS scale. With the help of the circadian visual-analog scale, the dynamics after the operative pain were studied. The effect of POSI on uterine tone and cardiac function of the fetus was investigated using cardiotocography. When forming the results for POSI, data from USDA, the severity of clinical and cosmetic manifestations of PCVD, the need for active prevention of thrombophlebetic, thromboembolic and hemorrhagic complications, minimization of surgical childbirth were taken into account. The results of treatment were studied in 2 groups of patients. Patients of the first group were treated with conservative therapy, the second group – POSI. Parametric indicators, which were presented as mean and standard error M(SD), were used for statistical data processing of the study, and their reliability was estimated using Student’s t-test. The species was determined to be significant at p<0.05. Results. 495 POSI were performed at 28-38 weeks gestation in an obstetric hospital (perinatal center), by a vascular surgeon from the staff of the center, who was familiarized with the peculiarities of working with this contingent of patients. Surgery was performed under local anesthesia in 346 (75.49%) pregnant women at one extremity, in 111 (24.51%) – at two in one session. According to the results of the study, it was noted that in the first group 33.7% of patients had a positive clinical result due to the reduction of pain syndrome, while 67.5% of patients had an increase and spread of varicose transformation in the area of saphenous and/or non-saphenous veins with spread of pathological venous reflux in the distal direction. 78% of patients had the need to administer prophylactic doses of low molecular weight heparins, both during pregnancy and in postpartum period. Out of 126 pregnant women with pronounced varicose veins of the external genital organs and perineum in 36 (28.6%) deliveries were performed by caesarean section. In 9 (3%) patients there was an acute thrombophlebitis of the subcutaneous veins of the lower extremities, which required 5 pregnant women to undergo urgent surgery when the inflammatory process had spread to the middle and above along the femoral vein of the large subcutaneous vein. Pregnant women of the second group with PSCVD on the basis of obstetric hospital (perinatal center) POSI were performed in the organization, which laid the ideology of the FTS program, strictly individual indications for intervention in the optimal terms of pregnancy, multidisciplinary management of patients, due to this in 93% of operated patients regression of clinical manifestations of the disease was noted, whch contributed to the correct and safe delivery of pregnancy with 100% absence of preterm birth, abnormalities in fetal development, pregnancy course, negative impact on obstetric and somatic condition of the pregnant woman. No hemorrhagic, thrombophlebic, thromboembolic complications were noted. Patients in the postoperative period did not require medical support, as during the period of pregnancy, during delivery and in the postpartum period. There were no indications for surgical delivery. 2.4% of patients experienced complications of post-operative wounds in the form of cheese, which had no effect on pregnancy and was eliminated before delivery. In the postoperative period, if necessary, it was recommended to use elastic compression class garments 1–2. Conclusion. POSI made at PSCVD in optimal terms of pregnancy in a specialized obstetric hospital by a vascular surgeon in strictly individual indications is safe, both for the fetus and the pregnant woman. It is promising to further study the results of POSI in pregnant women with PSCVD to introduce it into the arsenal of treatment of this pathology. Key words: FTS ideology, planned open surgical interventions in pregnant women.


2012 ◽  
Vol 18 (2) ◽  
pp. 136 ◽  
Author(s):  
Hyeoun-Ae Park ◽  
Yul Ha Min ◽  
Eunjoo Jeon ◽  
Eunja Chung

2021 ◽  
Vol 10 (3) ◽  
pp. 395
Author(s):  
Justyna Rymarowicz ◽  
Michał Pędziwiatr ◽  
Piotr Major ◽  
Bryan Donohue ◽  
Karol Ciszek ◽  
...  

The Coronavirus Disease 2019 (COVID-19) pandemic has made changes to the traditional way of performing surgical consultations. The aim of the present study was to assess the need for surgical care performed by various surgical specialties among patients infected with COVID-19 hospitalized in a COVID-19 dedicated hospital. All surgical consultations performed for patients infected with COVID-19 in a COVID dedicated hospital in a seven month period were evaluated. Data on demographics, surgical specialty, consult reason, procedure performed, and whether it was a standard face to face or teleconsultation were gathered. Out of 2359 COVID-19 patients admitted to the hospital in the seven month period, 229 (9.7%) required surgical care. Out of those 108 consultations that did not lead to surgery, 71% were managed by telemedicine. A total of 36 patients were operated on while suffering from COVID-19. Out of them, only three patients admitted primarily for COVID-19 pneumonia underwent emergency surgery. The overall mortality among those operated on was 16.7%. Conclusions: Patients hospitalised with COVID-19 may require surgical care from various surgical specialties, especially during peaks of the pandemic. However, they rarely require a surgical procedure and only occasionally require major surgery. A significant portion of potentially surgical problems could be managed by teleconsultations.


2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S254-S254
Author(s):  
Victoria Bengualid ◽  
Maria Martinez ◽  
Zhenisa Hysenaj ◽  
Debra M Willner ◽  
Judith Berger

Abstract Background The first case of COVID-19 was admitted on March 15th 2020 to our community based hospital in the Bronx, NY. The aim of this study is to describe the clinical characteristics and outcome of these first COVID-19 patients. Patient Characteristics and Outcome Methods IRB approved retrospective chart review study of all COVID-19 patients admitted during March 2020 focusing on patient characteristics, co-morbidities, clinical manifestations and outcome. Results A total of 177 patients were admitted during March 2020: 57% African American 23.1% Hispanic and 16.9% White. 44.9% female, average age 60 years, and 90% had at least one comorbidity. Outcome was available on all patients except for one who was transferred to another institution for ECMO. Overall mortality was 33%. Clinical presentation: 69.4% presented with cough or shortness of breath, 15.8% with diarrhea, nausea, vomiting or abdominal pain, and 14.6% with myalgia, dizziness or altered mental status. 6.2% presented only with fever. However 59.8% of patients presented with fever and respiratory or gastrointestinal symptoms. Mortality The table compares patients who died vs discharged (either home or to a short term facility). Those that were 65 years or older, hypertensive or presented to the ER with an oxygen saturation of 94% or lower, were more likely to die. Ventilated patients: 31.6% of patients were intubated with a mortality rate of 77%. 22% of these patients were intubated in the first 24 hours. Compared to non-intubated patients, there was no difference in BMI, diabetes, hypertension, COPD/Asthma, use of statins, aspirin or calcium channel blockers. Intubated patients older than 64 years had significantly higher mortality rates (p=0.0001). Conclusion This cohort of COVID-19 patients is unique as almost all received Hydroxychloroquine and Azithromycin. Only 9% received steroids and even fewer received an interleukin-6 inhibitor, convalescent plasma or Remdesivir. African Americans and Hispanics accounted for 80% of patients. Greater than 90% received Medicaid. Overall mortality was 33%. The most common presentation was respiratory followed by gastrointestinal symptoms. The overall mortality was 33% but increased to 77% in intubated patients. Age, hypertension, and ER oxygen saturation correlated with mortality. Disclosures All Authors: No reported disclosures


2021 ◽  
pp. 026010602110090
Author(s):  
Sophie Hogan ◽  
Daniel Steffens ◽  
Kenneth Vuong ◽  
Anna Rangan ◽  
Michael Solomon ◽  
...  

Background: Preoperative malnutrition is common in surgical oncology patients and can have negative effects on postoperative outcomes. Pelvic exenteration is major surgery associated with high morbidity rates. Associations between preoperative malnutrition, determined using the patient-generated subjective global assessment, and postoperative outcomes in this patient cohort has not yet been investigated. Aim: To determine if preoperative nutritional status is associated with postoperative surgical and quality of life (QoL) outcomes after pelvic exenteration surgery. Methods: A retrospective cohort study was conducted at a quaternary hospital investigating 123 patients who had pelvic exenteration surgery from January 2017 to August 2019. Preoperative nutritional status and postoperative surgical and QoL outcomes were collected and analysed to determine any associations. Results: Overall, 49.6% of patients were female with a median age of 59 years. Forty patients (32.5%) were malnourished and 83 (67.5%) were well nourished before surgery. Well-nourished patients had a shorter length of hospital stay ( p = 0.034) and at 6 months post-surgery, presented with a significantly better physical and mental QoL score ( p = 0.038 and p = 0.001 respectively). The regression analyses showed that intensive care unit (ICU) readmission rates were 7.19 times more likely to occur in malnourished patients ( p = 0.022). Conclusions: Preoperative malnutrition is associated with increased length of stay, ICU readmissions and poorer QoL following pelvic exenteration. Nutrition screening, assessment and optimisation of management are essential in this patient cohort to improve patient outcomes. Future studies are needed to measure the effect of interventions and identify the most beneficial model of care for this complex patient group.


2016 ◽  
Vol 33 (S1) ◽  
pp. S363-S364
Author(s):  
Á. López Díaz ◽  
A. Soler Iborte ◽  
S. Galiano Rus ◽  
J.L. Fernández González ◽  
J.I. Aznarte López

IntroductionThe term, acute and transient psychosis, is comprehended as a heterogeneous group of disorders, which share, as a common feature, the abrupt and brief deployment of typical psychotic behaviour, either polymorph, delusional, or schizophreniform. This diversity of symptoms may also be present in other psychotic disorders, for which, some authors question its reliability.ObjetiveTo analyse the clinical manifestations present in acute and transient psychotic disorders (ATPD), and determine the differences between its different subcategories.MethodRetrospective chart review study of adult patients admitted in our psychiatric unit between 2011 and 2015, with a mean diagnosis of ATPD at hospital discharge. Diagnostic criteria was according to the International Classification of Diseases (ICD-10). Symptoms were divided under operative procedures, as set out in psychopatologic descriptions. For methodological reasons, statistical analysis was conducted between polymorphic features group (PM) and nonpolymorphic group (NPM). Chi-squared test and Fisher's exact test (as appropriate) were performed, using MedCalc software.ResultsThirty-nine patients met the inclusion criteria. Acute polymorphic psychotic disorder with and without symptoms of schizophrenia (39%), acute schizophrenia-like psychotic disorder (20%), acute predominantly delusional psychotic disorder (23%), other and NOS (18%). There were statistically significant differences between PM and NPM groups in emotional turmoil (>PM, P = 0.0006), grossly disorganized or abnormal motor behaviour (>PM, P = 0.0038), and type of onset (sudden >PM, P = 0.0145).ConclusionCurrently, the same concept encompasses two categories (PM and NPM) to be differentiated. The ATPD construct is under review, due its long-term instability.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2020 ◽  
Author(s):  
Wanli Yang ◽  
Lili Duan ◽  
Xinhui Zhao ◽  
Liaoran Niu ◽  
Yiding Li ◽  
...  

Abstract Background: Gastric cancer (GC) is one of lethal diseases worldwide. Autophagy-associated genes play a crucial role in the cellular processes of GC. Our study aimed to investigate and identify the prognostic potential of autophagy-associated genes signature in GC. Methods: RNA-seq and clinical information of GC and normal controls were downloaded from The Cancer Genome Atlas (TCGA) database. Then, the Wilcoxon signed-rank test was used to pick out the differentially expressed autophagy-associated genes. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were performed to investigate the potential roles and mechanisms of autophagy-associated genes in GC. Cox proportional hazard regression analysis and Lasso regression analysis were carried out to identify the overall survival (OS) related autophagy-associated genes, which were then collected to construct a predictive model. Kaplan-Meier method and receiver operating characteristic (ROC) curve were utilized to validate the accuracy of this model. Finally, a clinical nomogram was established by combining the clinical factors and autophagy-associated genes signature. Results: A total of 28 differentially expressed autophagy-associated genes were identified. GO and KEGG analyses revealed that several important cellular processes and signaling pathways were correlated with these genes. Through Cox regression and Lasso regression analyses, we identified 4 OS-related autophagy-associated genes (GRID2, ATG4D, GABARAPL2, and CXCR4) and constructed a prognosis prediction model. GC Patients with high-risk had a worse OS than those in low-risk group (5-year OS, 27.7% vs 38.3%; P=9.524e-07). The area under the ROC curve (AUC) of the prediction model was 0.67. The nomogram was demonstrated to perform better for predicting 3-year and 5-year survival possibility for GC patients with a concordance index (C-index) of 0.70 (95% CI: 0.65-0.72). The calibration curves also presented good concordance between nomogram-predicted survival and actual survival. Conclusions: We constructed and evaluated a survival model based on the autophagy-associated genes for GC patients, which may improve the prognosis prediction in GC.


2021 ◽  
Author(s):  
Nan Zhou ◽  
Ruixue Dou ◽  
Xichao Zhai ◽  
Jingyang Fang ◽  
Jiajun Wang ◽  
...  

Abstract Purpose: The objective of this study was to predict the preoperative pathological grading and survival period of Pseudomyxoma peritonei (PMP) by establishing models, including a radiomics model with greater mental caking as the imaging observation index, a clinical model including clinical indexes, and a combination model of these two.Methods: A total of 88 PMP patients were selected. Clinical data of patients, including age, sex, preoperative serum tumor markers [CEA, CA125, and CA199], survival time, and preoperative computed tomography (CT) images were analyzed. Three models (clinical model, radiomics model and joint model) were used to predict PMP pathological grading. The models’ diagnostic efficiency was compared and analyzed by building the receiver operating characteristic (ROC) curve. Simultaneously, the impact of PMP’s different pathological grades was evaluated.Results: The results showed that the radiomics model based on the CT’s greater omental caking, an area under the ROC curve ([AUC] = 0.878), and the combined model (AUC = 0.899) had diagnostic power n for determining PMP pathological grade.Conclusion: The imaging radiomics model based on CT greater omental caking can be used to predict PMP pathological grade, which is important in the treatment selection method and prognosis assessment.


Author(s):  
А.В. Серёжкина ◽  
И.Г. Хмелевская ◽  
Н.С. Разинькова ◽  
Т.А. Миненкова ◽  
И.И. Жизневская ◽  
...  

Поскольку непосредственные этиологические факторы аномалии развития не известны, в работе выделены основные группы причин, способствующих формированию пороков развития головного мозга. Большое значение отводится ранней диагностике пороков развития, которая позволяет своевременно решить вопрос о возможности пролонгирования беременности, что определяется видом порока, совместимостью с жизнью и прогнозом в отношении постнатального развития. В исследовании рассматриваемого порока развития большую роль играют такие современные методы, как пренатальная ультразвуковая диагностика, нейросонография, рентгеновская компьютерная и магнитно-резонансная томография головного мозга, имеющие достаточно высокую информативность. Указаны сроки гестации, позволяющие выявить структурные дефекты головного мозга. Медико-генетическое консультирование помогает выявить риск появления больного потомства. Проведена дифференциальная диагностика семилобарной с другими формами голопрозэнцефалии. Также отмечены возможные клинические проявления рассматриваемой нозологии. В данной статье представлен клинический случай семилобарной голопрозэнцефалии, диагностированной у мальчика в возрасте 1 месяц. При поступлении мать предъявляла жалобы на срыгивания и периодическое беспокойство сына. Объем и результаты обследования ребенка изложены ниже. Выявлена сопутствующая патология в виде пупочной грыжи, врожденной аномалии развития мочевой системы: подковообразная почка; водянки яичек и головчатой формы гипоспадии. После проведения курса поддерживающей терапии пациент был выписан в стабильном состоянии. В настоящее время специфическое лечение голопрозэнцефалии отсутствует. Оперативные вмешательства на головном мозге проводятся редко ввиду тяжести состояния больных, в связи с чем лечение данной патологии возможно только с помощью хирургической коррекции симптомов. Длительная дыхательная и кардиоваскулярная дисфункция предопределяет летальный исход заболевания. Since the direct etiological factors of developmental abnormalities are not known, the main groups of causes contributing to the formation of brain malformations are identified in the work. Great importance is given to the early diagnosis of malformations, which allows us to timely resolve the issue of the possibility of prolonging pregnancy, which is determined by the type of defect, compatibility with life and the prognosis for postnatal development. In the study of the considered malformation, such modern methods as prenatal ultrasound diagnostics, neurosonography, X-ray computer and magnetic resonance imaging of the brain, which have a sufficiently high informative value, play an important role. The terms of gestation are indicated, which make it possible to identify structural defects of the brain. Medical and genetic counseling helps to identify the risk of the appearance of sick offspring. The differential diagnosis of semilobar with other forms of holoprosencephaly was carried out. Possible clinical manifestations of the nosology under consideration are also noted. This article presents a clinical case of semilobar holoprosencephaly diagnosed in a boy at the age of 1 month. Upon admission, the mother complained of regurgitation and periodic anxiety of her son. The scope and results of the child's examination are set out below. Concomitant pathology was revealed in the form of an umbilical hernia, a congenital abnormality of the development of the urinary system: a horseshoe kidney; dropsy of the testicles and a cephalic form of hypospadias. After a course of maintenance therapy, the patient was discharged in a stable condition. Currently, there is no specific treatment for holoprosencephaly. Surgical interventions on the brain are rarely performed due to the severity of the patients ' condition, and therefore, the treatment of this pathology is possible only with the help of surgical correction of symptoms. Prolonged respiratory and cardiovascular dysfunction determines the fatal outcome of the disease.


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