Complicated Course Research Articles

Mitral Valve Repair in Advanced Age Groups: Does Cardiac Age Differ from Chronological Age?

Advanced age is a risk factor in cardiac surgery contributing significantly to a worse outcome. The reasons are frailty and multimorbidity. In this study, we asked: Is there an aging of the heart which differs from chronological age? Propensity score matching was performed between 115 seniors ≥ 80 years and 345 juniors < 80 years. After the patients were found to be comparable in terms of cardiac and noncardiac disease and risk profiles, they were further analyzed for cardiac parameters. In addition, the seniors and juniors were compared in terms of cardiac health and postoperative outcome. Furthermore, the patients were subdivided into several age groups (<60 years, 60-69 years, 70-79 years, and >80 years) and compared regarding outcome. The seniors demonstrated significantly lower tricuspid annular plane systolic excursion (TAPSE), significantly more frequent diastolic dysfunction, significantly higher plasma levels of NT-proBNP, and significantly larger left ventricular end-diastolic and end-systolic diameters and left atrial diameters (p < 0.001, respectively). Furthermore, in-hospital mortality and most postoperative complications were significantly higher in seniors compared with juniors. While old cardiac healthy patients showed better outcome than old cardiac aged patients, the outcome from young cardiac aged patients was better than old cardiac aged patients. The outcome and survival deteriorated with increasing life decades. The elderly suffer significantly more from cardiac deterioration, i.e., cardiac aging, and show higher multimorbidity. Mortality risk is significantly higher and they suffer more often from a complicated postoperative course compared to younger patients. Further approaches to prevention and treatment of cardiac aging are needed to address the needs of an aging society.

Experiences of isolation in patients in the intensive care unit during the COVID-19 pandemic.

During the COVID-19 pandemic, patients in the intensive care unit have been subjected to strict isolation precautions, and potentially long and complicated patient courses. The aim of the study is to provide an investigation of the experiences of isolation in COVID-19-positive patients in the ICU during the first phase of the COVID-19 pandemic in Denmark. The study was performed in a 20-bed ICU at a university hospital in Copenhagen, Denmark. The study is based on a phenomenological framework, Phenomenologically Grounded Qualitative Research. This approach provides insights into the tacit, pre-reflective and embodied dimensions of the specific experience under investigation. Methods included a combination of in-depth structured interviews with ICU patients 6-12 months after ICU discharge, and observations from inside the isolated patient rooms. The descriptions of experiences gathered through the interviews were subjected to systematic thematic analysis. Twenty-nine patients were admitted to the ICU in the period 10 March and 19 May 2020. A total of six patients was included in the study. Themes consistently reported across all patients included (1) being objectified to degrees that implied self-alienation; (2) feeling a sense of being in captivity; (3) being in an experiential state of surrealism, and finally (4) experiencing extreme loneliness and intercorporeal deprivation. This study provided further insights into the liminal patient experiences of being isolated in the ICU due to COVID-19. Robust themes of experience were achieved through an in-depth phenomenological approach. Although, similarities in experiences compared to other patient groups exist, the precarious situation constituted by COVID-19 lead to significant intensifications across multiple parameters.

A Current State of Proteomics in Adult and Pediatric Inflammatory Bowel Diseases: A Systematic Search and Review.

Inflammatory bowel diseases (IBD) are systemic immune-mediated conditions with predilection for the gastrointestinal tract and include Crohn's disease and ulcerative colitis. Despite the advances in the fields of basic and applied research, the etiopathogenesis remains largely unknown. As a result, only one third of the patients achieve endoscopic remission. A substantial portion of the patients also develop severe clinical complications or neoplasia. The need for novel biomarkers that can enhance diagnostic accuracy, more precisely reflect disease activity, and predict a complicated disease course, thus, remains high. Genomic and transcriptomic studies contributed substantially to our understanding of the immunopathological pathways involved in disease initiation and progression. However, eventual genomic alterations do not necessarily translate into the final clinical picture. Proteomics may represent a missing link between the genome, transcriptome, and phenotypical presentation of the disease. Based on the analysis of a large spectrum of proteins in tissues, it seems to be a promising method for the identification of new biomarkers. This systematic search and review summarize the current state of proteomics in human IBD. It comments on the utility of proteomics in research, describes the basic proteomic techniques, and provides an up-to-date overview of available studies in both adult and pediatric IBD.

Device Exchange to HeartMate 3 LVAD: Impact of Previous Pump Model on Clinical Outcomes

BackgroundWe describe our clinical experience performing device exchange from a HeartMate II (HM2) or HVAD to a HeartMate 3 (HM3) left ventricular assist device. MethodsA single-center retrospective study was performed of all patients (N = 14) who underwent a left ventricular assist device exchange from HM2 (n = 7) or HVAD (n = 7) to HM3 between October 2018 and October 2021. The primary outcome was 1-year overall survival, and secondary outcomes included adverse events through discharge. ResultsAll patients (median age, 59 years; 29% female) were destination therapy and required urgent device exchange because of pump failure. Although statistically insignificant, the 1-year overall survival was worse in the HVAD to HM3 group compared with the HM2 to HM3 cohort (57% vs 100%, respectively; P = .19). The HVAD to HM3 group also experienced significantly more acute right-sided heart failure requiring right ventricular assist device support (71% vs 0%; P = .02), ventilator days (11 days vs 1 day; P = .001), and reoperation (100% vs 14%; P = .004). ConclusionsPatients being considered for device exchange from HVAD to HM3 may have a more complicated clinical course compared with HM2 to HM3 patients.

A Cluster of Neuroinvasive Adenovirus Infections on a College Campus: Case Series.

We present six adenovirus cases that emerged from a cluster of respiratory illnesses within a college population. Two patients required intensive care with complicated hospital courses and experienced residual symptoms. Four additional patients were evaluated in the emergency department (ED) with two additional diagnoses of neuroinvasive disease. These cases represent the first known occurrences of neuroinvasive adenovirus infections in healthy adults. An individual presented to the ED with fever, altered mental status, and seizures after being found unresponsive in his apartment. His presentation was concerning for significant central nervous system pathology. Shortly after his arrival, a second individual presented with similar symptoms. Both required intubation and admission to a critical care setting. Over a 24-hour period, four additional individuals presented to the ED with moderate severity symptoms. All six individuals tested positive for adenovirus in their respiratory secretions. A provisional diagnosis of neuroinvasive adenovirus was made after consultation with infectious diseases. This cluster of cases appears to represent the first known reported diagnosis of neuroinvasive adenovirus in healthy young individuals. Our cases were also unique in demonstrating a significant spectrum of disease severity. Over 80 individuals in the broader college community ultimately tested positive for adenovirus in respiratory samples. As respiratory viruses continue to challenge our healthcare systems, new spectrums of disease are being discovered. We believe clinicians should be aware of the potential severity of neuroinvasive adenovirus disease.

A focus on pregnancy course and outcomes of women with zero-fluoroscopy catheter ablation during gestation: a 2-year follow-up study

Abstract Funding Acknowledgements Type of funding sources: None. Background Arrhythmias in pregnant are common clinical problem. Catheter ablation may be required in cases of drug refractory and hemodynamically unstable arrhythmias. Data on further course of pregnancy, perinatal outcomes and results of zero-fluoroscopy catheter ablation in pregnant patients is limited. Purpose we aimed to determine efficacy and safety of zero-fluoroscopy catheter ablation during gestation. Methods 54 pregnant indicated for catheter ablation (Mean age of women was 26.2±3.2 years, mean gestation age 23.3 ±2.4 weeks) due to drug refractory. Further course of pregnancy, perinatal outcomes, complications and arrhythmia recurrence checked during 2-year follow-up. Results Atrioventricular nodal reentrant tachycardia was the most common arrhythmia (n=21; 38.9%). This was followed by Wolff–Parkinson–White syndrome (n=18; 33.3%). In five pregnant was combination of accessory pathways with slow conduction ways (9.3%). Cases of zero-fluoroscopy catheter ablation of ventricular tachycardia (n=2; 3.7%) and premature ventricular contraction (n=8; 14.8%) during gestation were rare. Zero-fluoroscopy catheter ablation successfully performed in all cases (median procedural time was 73±13 minutes). Procedural complication was in one cases (ileofemoral thrombosis). There was no termination of pregnancy after ablation. In five women were increased uterine contractility and uterine blood flow violation (n=5; 9.3%). Preterm delivery was in two cases (3.7%) at 35 and 36 weeks of gestation. Type of delivery was vaginal in the majority (n=42; 77.7%). There were three cases of placental abruption and preeclampsia (5.6%). There were 55 live births (in one case were twins). Fetal birth weight was 3238.7±559.2 grams, 5 minute Apgar was 8.5±1.1. There were no maternal and fetal mortality. At 2-year follow-up there were no arrhythmia recurrence. Conclusions Zero-fluoroscopy catheter ablation during gestation may be safe and effective. It is associated with benign pregnancy course, perinatal and neonatal outcomes.

Home discharge location is safest following fracture of the hip.

To determine the factors associated with discharge location in patients with hip fractures and whether home discharge was associated with a lower readmission and complication rate. Hip fracture patients who presented to our academic medical center for operative management of a hip fracture were enrolled into an IRB-approved hip fracture database. Radiographs, demographics, and injury details were recorded at the time of presentation. Patients were grouped based upon discharge disposition: home (with or without home services), acute rehabilitation facility (ARF), or sub-acute rehabilitation facility (SAR). The cohorts differed in marital status, with a greater proportion of patients discharged to home being married (51.7% vs. 43.8% vs. 34.1%) (P < 0.05). Patients discharged to home were less likely to require an assistive device (P < 0.05). Patients discharged to home experienced fewer post-operative complications (P < 0.05) and had lower readmission rates (P < 0.05). Being married was associated with an increased likelihood of discharge to home (OR = 1.679, CI = 1.391-2.028, P < 0.001). Being enrolled in Medicare/Medicaid was associated with decreased odds of discharge to home (OR = 0.563, CI = 0.457-0.693, P < 0.001). Use of an assistive device was associated with decreased odds of discharge to home (OR = 0.398, CI = 0.326-0.468, P < 0.001). Increases in CCI (OR = 0.903, CI = 0.846-0.964, P = 0.002) and number of inpatient complications (OR = 0.708, CI = 0.532-0.943, P = 0.018) were associated with decreased odds of home discharge. Hip fracture patients discharged to home were healthier and more functional at baseline, and also less likely to have had a complicated hospital course. Those discharged to home also had lower rates of readmission and post-operative complications. III.

Prognostic value of anti- and proangiogenic factors in severe preeclampsia

BACKGROUND:Over the years, preeclampsia has remained a common pathology of pregnancy. Its severe form poses a significant threat to the health of the woman and the fetus. To assess the risk of developing preeclampsia, biochemical screening for placental growth factor and soluble tyrosine kinase-1 is carried out. The soluble glycoprotein endoglin, which regulates angiogenesis by influencing cell activation, adhesion, and migration, can supplement the idea of the imbalance of vascular factors in severe preeclampsia. A holistic study of anti- and proangiogenic factors can significantly complement the diagnosis of preeclampsia at the preclinical stage and a look at the course and treatment of this pregnancy complication.&#x0D; AIM:The aim of this work was to evaluate the concentrations of anti- and proangiogenic factors (soluble glycoprotein endoglin, soluble tyrosine kinase-1, placental growth factor) and compare the obtained data with the clinical manifestations of severe preeclampsia.&#x0D; MATERIALS AND METHODS:This case-control study included 81 pregnant women. The main group consisted of patients with severe preeclampsia (n= 41), while the control group comprised individuals with normal pregnancy (n= 40). To determine soluble glycoprotein endoglin levels in biological fluids, we used a new ELISA kit developed in the Laboratory of Hybridoma Technology, Academician A.M. Granov Russian Research Center for Radiology and Surgical Technologies (Saint Petersburg, Russia). placental growth factor and soluble tyrosine kinase-1 concentrations were assessed by electrochemiluminescence immunoassay using commercial Roche Diagnostics kits. Statistical analysis was performed using the StatTech v.3.0.6 program (Stattech Ltd., Russia).&#x0D; RESULTS:When analyzing the concentrations of anti- and proangiogenic factors (soluble glycoprotein endoglin in the blood serum and urine, soluble tyrosine kinase-1, placental growth factor and the ratio of these factors), depending on the study group, statistically significant results were obtained (p 0.05). The diagnostic significance of serum and urine soluble glycoprotein endoglin levels in predicting the probability of severe preeclampsia was assessed by the method of ROC curve analysis. Statistically significant differences (p 0.05) were found in the analysis of the concentrations of anti- and pro-angiogenic factors depending on the clinical manifestations such as systolic blood pressure 160 mm Hg (except for placental growth factor level), a multiple increase in urine soluble glycoprotein endoglin level with massive proteinuria, an increase in soluble glycoprotein endoglin levels in biological fluids with an increase in edematous syndrome. Correlation analysis revealed a significant relationship between anti- and proangiogenic factors and the term of delivery, as well as urine soluble glycoprotein endoglin level and the duration of the treatment.&#x0D; CONCLUSIONS:The data obtained complement the concept of severe preeclampsia. Knowing the concentrations of soluble glycoprotein endoglin in the blood serum and urine allows for predicting the timing of delivery and the possible duration of treatment, which is critical in the management of patients with severe preeclampsia.

Orthopaedic surgery residents report little subjective or objective familiarity with healthcare costs.

Residents have limited education regarding the cost of orthopaedic interventions. Orthopaedic residents' knowledge was surveyed in three scenarios involving an intertrochanteric femur fracture: 1) uncomplicated course with 2-day hospital stay; 2) complicated course necessitating ICU admission; and 3) readmission for pulmonary embolism management. From 2018 to 2020, 69 orthopaedic surgery residents were surveyed. Respondents estimated hospital charges and collections; professional charges and collections; implant cost; and level of knowledge depending on the scenario. Most residents (83.6%) reported feeling "not knowledgeable". Respondents reporting "somewhat knowledgeable" did not perform better than those who reported "not knowledgeable". In the uncomplicated scenario, residents underestimated hospital charges and collections (p < 0.01; p = 0.87), and overestimated hospital charges and collections and professional collections (all p < 0.01) with an average percent error of 57.2%. Most residents (88.4%) were aware the sliding hip screw construct costs less than a cephalomedullary nail. In the complex scenario, while residents underestimated the hospital charges (p < 0.01), the estimated collections were closer to the actual figure (p = 0.16). In the third scenario, residents overestimated the charges and collections (p = 0.04; p = 0.04). Orthopaedic surgery residents receive little education regarding healthcare economics and feel unknowledgeable therefore a role for formal economic education during orthopaedic residency may exist.

SARS-CoV-2, vaccination or autoimmunity as causes of cardiac inflammation. Which form prevails?

The causes of cardiac inflammation during the COVID-19 pandemic are manifold and complex, and may have changed with different virus variants and vaccinations. The underlying viral etiology is self-evident, but its role in the pathogenic process is diverse. The view of many pathologists that myocyte necrosis and cellular infiltrates are indispensable for myocarditis does not suffice and contradicts the clinical criteria of myocarditis, i.e., acombination of serological evidence of necrosis based on troponins or MRI features of necrosis, edema, and inflammation based on prolonged T1 and T2times and late gadolinium enhancement. The definition of myocarditis is still debated by pathologists and clinicians. We have learned that myocarditis and pericarditis can be induced by the virus via different pathways of action such as direct viral damage to the myocardium through the ACE2 receptor. Indirect damage occurs via immunological effector organs such as the innate immune system by macrophages and cytokines, and then later the acquired immune system via Tcells, overactive proinflammatory cytokines, and cardiac autoantibodies. Cardiovascular diseases lead to more severe courses of SARS-CoV‑2 disease. Thus, heart failure patients have adouble risk for complicated courses and lethal outcome. So do patients with diabetes, hypertension, and renal insufficiency. Independent of the definition, myocarditis patients benefitted from intensive hospital care, ventilation, if needed, and cortisone treatment. Postvaccination myocarditis and pericarditis affect primarily young male patients after the second RNA vaccine. Both are rare events but severe enough to deserve our full attention, because treatment according to current guidelines is available and necessary.

How Does Long-COVID Impact Prognosis and the Long-Term Sequelae?

We reviewed what has been studied and published during the last 3 years about the consequences, mainly respiratory, cardiac, digestive, and neurological/psychiatric (organic and functional), in patients with COVID-19 of prolonged course. To conduct a narrative review synthesizing current clinical evidence of abnormalities of signs, symptoms, and complementary studies in COVID-19 patients who presented a prolonged and complicated course. A review of the literature focused on the involvement of the main organic functions mentioned, based almost exclusively on the systematic search of publications written in English available on PubMed/MEDLINE. Long-term respiratory, cardiac, digestive, and neurological/psychiatric dysfunction are present in a significant number of patients. Lung involvement is the most common; cardiovascular involvement may happen with or without symptoms or clinical abnormalities; gastrointestinal compromise includes the loss of appetite, nausea, gastroesophageal reflux, diarrhea, etc.; and neurological/psychiatric compromise can produce a wide variety of signs and symptoms, either organic or functional. Vaccination is not associated with the emergence of long-COVID, but it may happen in vaccinated people. The severity of illness increases the risk of long-COVID. Pulmonary sequelae, cardiomyopathy, the detection of ribonucleic acid in the gastrointestinal tract, and headaches and cognitive impairment may become refractory in severely ill COVID-19 patients.

Significant increase in mortality and risk of acute ischemic stroke in infective endocarditis patients with subarachnoid hemorrhage secondary to mycotic aneurysms

Infective Endocarditis (IE) patients are known to have a variety of complications with one of the rarest, but serious being cerebral mycotic aneurysm, which can result in subarachnoid hemorrhage (SAH). Using the National In-Patient Sample database, we sought to determine the rate of acute ischemic stroke (AIS) and outcomes in IE- patients with and without SAH. In total, we identified 82,844 IE-patients from 2010 to 2016, of which 641 had a concurrent diagnosis of SAH. IE patients with SAH had a more complicated course, higher mortality rate (OR 4.65 CI 95% 3.9–5.5, P < 0.001), and worse outcomes. This patient population also had a significantly higher rate of AIS (OR 6.3 CI 95% 5.4–7.4, P < 0.001). Overall, 41.5% of IE-patients with SAH had AIS during their hospitalization as compared to 10.1% of IE only patients. IE-patients with SAH were more likely to undergo endovascular treatment (3.6%) with 0.8% of the IE patients with AIS undergoing mechanical thrombectomy. While IE-patients are at risk for various complications, our study suggests a significant increase in the mortality and risk of AIS in those with SAH.

Vitamin D metabolism in patient with type 1 diabetes, chronic kidney disease, and charcot foot: a case report

Patients with multiple complications of diabetes mellitus often have significant deviations in the parameters of calcium-phosphorus and bone metabolism. The multifactorial nature of the pathogenesis of such disorders makes it difficult to manage patients with a long and complicated course of diabetes mellitus. This article describes a clinical case of a patient with a long history of type 1 diabetes mellitus, kidney transplantation as a result of terminal renal failure, and diabetic neuroosteoarthropathy. The features of vitamin D metabolism, the importance of timely diagnosis of phosphorus-calcium disorders and the features of patient therapy are discussed.

Lupus anti-coagulant hypoprothrombinemia syndrome across different ages: a case report and review of the literature.

Lupus anti-coagulant hypoprothrombinemia syndrome (LAHPS) is a rare condition that can be difficult to treat. It increases the risk of thrombosis and bleeding due to the presence of lupus anti-coagulant and factor II deficiency, respectively. There are a limited number of cases described in the literature. Herein we describe a case of LAHPS with bleeding symptoms as a first clinical manifestation of systemic lupus erythematosus (SLE) in an 8-year-old female. She has had multiple recurrences of her bleeding symptoms, requiring treatment with steroids, cyclophosphamide, mycophenolate mofetil, and rituximab. Her course was later complicated by development of arthritis and lupus nephritis. Her complicated course provides a new perspective on the clinical course and treatment of LAHPS. We also present a comprehensive literature review which demonstrates the difficulty in treating patients with LAHPS with underlying SLE and the variability of the clinical course and management of LAHPS depending on the age at presentation.

Strategy for the management and prevention of psycho-emotional disorders in the GP’s practice

Psycho-emotional disorders, such as anxiety disorders, acute and chronic stress, are significant risk factors for the development and complicated course of both major cardiovascular and other common chronic non-communicable diseases. The psycho-emotional disorders significantly reduce patients’ motivation and adherence to lifestyle changes and drug therapy, significantly worse quality of life, increase the risk of disability and healthcare system expenditures. The topicality of the issues of diagnosis and management of psycho-emotional disorders in the general practitioner’s practice is caused, on the one hand, by high rates of these disorders in patients with cardiovascular and other chronic diseases, deterioration in quality of life and an increase in adverse outcomes, and on the other hand, inadequate awareness of the risks associated with the sphere of psycho-emotional status in patients. The management of psycho-emotional disorders includes both pharmacological and non-pharmacological treatments. Antidepressants that fall into the class of selective serotonin or serotonin and norepinephrine reuptake inhibitors are the first-line drugs used for the treatment of most of the disorders discussed. However, prescription of these drugs requires to take into account a wide range of possible side effects in patients with chronic diseases, including CVDs. Drugs that have fast onsets of sedative and anti-anxiety action, also known as tranquilizers, are more widely used in real-world clinical practice. Tofisopam is the most promising from this group of drugs in therapeutic and cardiological practice. The efficacy and safety of tofisopam have been studied in numerous studies in patients with chronic non-communicable diseases and a wide range of anxiety disorders, including the long-term use of the drug.

Current possibilities of using silver proteinate in the treatment of inflammatory diseases of the nose and paranasal sinuses

The article evaluates the possibility of using silver proteinate to treat acute inflammatory diseases of the nasal cavity and paranasal sinus mucosa, as well as their complications. Acute rhinitis and rhinosinusitis are among the most common upper respiratory diseases. Viral pathogens are the main agents that trigger the pathological process. At the same time, the bacterial superinfection in some cases may develop due to viral infection, which promotes further development of lingering clinical symptoms up to a complicated course of the disease. The course of rhinosinusitis with underlying COVID-19 infection can be complicated by fungal superinfection and postnasal drip. For these reasons, topical drugs that could be used in the early stages of these conditions should have a number of properties, such as activity against most respiratory viruses and aetiologically significant bacterial pathogens; lack of opportunity to evolute and implement rapid resistance mechanisms in microorganisms; additive effects with other antibacterial drugs; acceleration of regeneration of the nasal cavity and paranasal sinus mucosa with underlying infectious alteration; vasoconstrictive and anti-inflammatory action, without causing an addictive effect, which enables repeated use of the drug in chronic diseases, as well as the absence of local and systemic toxic effects. Sialor (silver proteinate) has all the specified characteristics that were proved in various studies, and consistently demonstrated high clinical efficacy for many years.

Primary EBV Lymphoproliferative Disease Responsive to Therapy in a Patient with CTLA4-Haploinsufficiency

Epstein-Barr virus lymphoproliferative disease (EBV-LPD) occurs most often in patients with acquired immunosuppression. However, several inborn errors of immunity have been associated with primary EBV-LPD, including pathogenic variants in SH2D1A, ITK, MAGT1, CORO1A, CD27, CTPS1, RASGRP1, and ZAP70 (PMID29942301,34239742). Here, we present a patient with primary EBV-LPD in the setting of CTLA-4 haploinsufficiency. JC is a 25yo male with Evans syndrome, hypogammaglobulinemia, and central nervous system vasculitis who presented to the NIH for evaluation of EBV-LPD. After a complicated course of legionella pneumonia at age 23, he developed recurrent fevers, respiratory distress, hypoxia, and night sweats responsive to dexamethasone. Chest CT revealed innumerable bilateral pulmonary nodules and masses with mediastinal hilar lymphadenopathy and scattered ground glass opacities. Transbronchial biopsy demonstrated EBV-positive B-cell LPD with extensive necrosis and clonal gene rearrangements. He responded well to 1 cycle of rituximab. Two years later, he again had fever, dyspnea on exertion, and hypoxia requiring glucocorticoids. Chest CT revealed ground glass opacities of the lungs, lung nodules/masses, and consolidation. Lung biopsy showed T and B-cell infiltrates, EBV+ B-cells by immunohistochemistry, and a clonal B-cell population (Figure 1). His course was also complicated by concurrent Pneumocystis Jirovecii (PJP) infection. He received 1 cycle of rituximab, trimethoprim-sulfamethoxazole, and sirolimus for treatment of his EBV-LPD, PJP, and underlying CTLA-4 haploinsufficiency respectively with symptomatic and radiologic response (Figure 2). [Display omitted] [Display omitted] NIAID whole exome sequencing (WES) revealed 2 compound heterozygous variants in CTLA-4 in trans: a novel pathogenic variant c.373G > A, p.Gly125Arg, and a non-pathogenic c.326G > A, p.Gly109Glu, shared with his mother(allele frequency of 0.000367 popmaxv.3.1.1 and Cadd score 17). Other variants that may contribute to EBV-LPD are under investigation.EBV-LPD in CTLA-4 haploinsufficiency is rare, previously reported in only 2 pediatric cases (PMID34329649). Additionally, WES revealed compound heterozygous variants in CTLA-4; however, only 1 variant was proven pathogenic. While this patient initially demonstrated excellent response to first line therapy, long-term prognosis is guarded. Abatacept was not included in this patient’s treatment because of an association with progressive LPD in patients with and without CTLA-4 haploinsufficiency. Immune reconstitution with bone marrow transplantation will likely be required for permanent disease control.

Bilateral Robotic Nephrectomy in a Pediatric Female Patient: A Case Report

Background: We present a report of a robotic bilateral native nephrectomy (BNN) performed on a pediatric patient awaiting kidney transplantation. We describe this rarely performed minimally invasive procedure, especially in the pediatric population. Case Summary: The procedure was performed on a six-year-old girl suffering from worsening kidney function secondary to focal segmental glomerulosclerosis (FSGS). The patient's disease was refractory to all medical management and incurred many complications throughout her course. Because of the complicated course and worsening proteinuria, it was decided to perform a robotic BNN while the patient awaited kidney transplantation. Conclusion: Heavy proteinuria carries a greater risk of severe complications in children with FSGS. Synchronized BNN has significantly reduced these risks, specifically thromboembolisms. In addition, these children could benefit from implementing robotic-assisted BNN with the techniques described. Minimally invasive robotic surgery provides a feasible approach to managing this problematic clinical condition.

Intestinal intussusception in a child with Peutz-Jeghers syndrome: case report.

A clinical observation of a 5-year-old patient with a complicated course of PJS is presented. Emphasis on recurring episodes of acute abdomen, clinical diagnosis including polyp histopathology, and surgical management is emphasised. While an inpatient, bloodwork demonstrated severe iron deficiency anaemia (haemoglobin 72g/l, red blood cell 3.1×1012/l) and multiple melanin pigmentations measuring 2-4mm in size on the lip mucosa during a physical examination. Erosive duodenopathy and polyposis of the stomach were discovered via fibroesophagogastroduodenoscopy (multiple gastric polyps 5-10mm in size). Acute intussusception of the intestine was discovered by ultrasonography. A mid-median laparotomy was performed alongside manual disinvagination with gut viability intact. Histopathology of excised polyps revealed smooth muscle hyperplasia and Ki67 protein (MIB-1) positivity with small intestinal hamartomatous polyps seen macroscopically. Conservative management was initiated for standard postoperative care and intestinal motility. Patient was discharged 9 days postoperatively. Based on literature data, modern ideas concerning aetiology, diagnosis, and management of patients with PJS are considered. Attention is focused on the high risk of developing cancer of various localisation in PJS, recommendations are given for cancer screening and clinical observation of patients with hereditary gastrointestinal syndromes in childhood.

Abstract #1408214: Severe Hypernatremia Due to Central Diabetes Insipidus with Adipsia: Challenges in Management

Hypernatremia (serum sodium >145meq/L) is independently associated with increased mortality as high as 40-60%. Mortality correlates with the rapidity of the rise in sodium and the degree of severity. Central Diabetes Insipidus (DI) associated with adipsia pose a unique management challenge, leading to recurrent hospital admissions due to hypernatremia. We report, a patient with Central DI who presented with severe hypernatremia following desmopressin non-compliance and inadequate water intake. A 25-year female with a past history of obstructive hydrocephalous underwent ventriculoperitoneal shunt revision and had a complicated hospital course including new onset Central DI. The patient was discharged on desmopressin and a serum sodium of 148 meq/L. She presented to the hospital 3 days later with altered mentation, dehydration, and a heart rate of 124bmp. Other vital signs were stable. CT head showed no acute intracranial abnormalities. Labs showed: serum sodium 190meq/L, serum osmolality 393mOsm/kg, urine sodium 44mEq/L, and urine osmolality 878mEq/L. She initially received IV isotonic fluid, and IV DDAVP, and later started on hypotonic fluid and oral DDAVP. Labs were monitored every 6 hours. The patient didn’t have a sense of thirst, didn’t like the taste of water, and had a suboptimal response to oral DDAVP. Multiple measures were taken to stabilize her serum sodium: switched to DDAVP Nasal spray, placed alarms on her cell phone as a reminder to drink water, flavored powders were used to make the water palatable, and provided education on the importance of DDAVP, adequate water intake, and outpatient follow-ups. The patient was safely discharged home after demonstrating the ability to maintain normal serum sodium on oral fluid intake and self-administered nasal DDAVP. Thirst is a critical adaptive mechanism to protect against hypernatremia. Intense thirst may be present initially, but it dissipates as hypernatremia progresses and is absent in patients with adipsia. Destruction or improper functioning of osmoreceptors in the hypothalamus that controls the thirst mechanism can result in adipsia; this may result from a congenital malformation or acquired as in the case of stroke, trauma, or infection. It was most likely secondary to multiple intracranial procedures in our patient. This case also highlights cerebral adaptation to chronic hypernatremia. Brain shrinkage is countered by an adaptive response initiated promptly and consists of solute gain (initial uptake of sodium and potassium, followed by the later accumulation of osmolytes; mainly myoinositol and the amino acid glutamine) by the brain that tends to restore lost water. This response leads to the normalization of brain volume and accounts for the milder symptoms of hypernatremia that develops slowly, as seen in this patient. In conclusion, patients with Central DI associated with adipsia can pose a significant management challenge. This case highlights the importance of addressing all the barriers that affect patients’ compliance with DDAVP and ensuring adequate hydration to prevent recurrent hospital admission and associated morbidity and mortality.