Episodes Of Swelling Research Articles

Клінічний випадок рецидивуючого паротиту в дитини. Обговорення причин

У статті детально описаний клінічний випадок рецидивуючого паротиту в 6-річної дитини, наведено результати лабораторного й інструментального обстеження, методи та ефективність терапевтичного підходу. Проведено аналіз і класифікацію можливих інфекційних та неінфекційних причин ураження слинних залоз у дітей, включаючи запальні захворювання, автоімунні та гіпертрофічні ураження, обструктивні та травматичні стани, дефекти розвитку, пухлини. Як приклад наведено діагностичні критерії синдрому Шегрена, саркоїдозу, хвороби кошачих подряпин, кон’юнктивіту Паріно. У результаті диференціального підходу в цьому клiнiчному випадку було встановлено діагноз виключення — ювенільний рецидивуючий паротит. У статті наведено епідеміологічні особливості цієї патології, діагностичні критерії, обговорено можливi причини, рекомендації щодо лікування. Акцент зроблено на необхідності та безпецi вакцинації проти епідемічного паротиту, на важливості уникнення призначення ліків, що не є необхідними. Лікування має бути лише симптоматичним. Підкреслено необхідність подальшого спостереження за пацієнтами після перших епізодів рецидивуючого паротиту.

Maxillary and Mandibular Split Crest Technique with Immediate Implant Placement: A 5-Year Cone Beam Retrospective Study.

This study aimed to test the effectiveness and reliability of the alveolar ridge-splitting technique in atrophic posterior arches, investigating the middle-term volumetric and clinical outcomes. Atrophic alveolar ridges in the maxillary and mandibular posterior areas were treated with the alveolar ridge-splitting/expansion technique (ARST), immediate implant placement, collagen sponges covering the defect, and healing by secondary intention. Areas were rehabilitated by fixed dental prostheses supported by dental implants. Changes in volume and width of the alveolar ridge were retrospectively calculated by comparing the x-ray tomography scans obtained before and 5 years after surgery. Report of failure in the case sheets was taken into account. Cross-sectional images were also used to assess the thickness of the labial alveolar plates at the implant shoulder. Nonparametric analyses of variance with post hoc and pair-comparison tests were performed with a level of significance of .05. A total of 38 patients were retrospectively selected (23 women and 15 men). Six patients underwent ARST surgeries in both the maxilla and the mandible and were excluded from statistical analysis. Differences between 16 maxillae and 16 mandibles and between 12 single crowns and 20 fixed partial dentures (FPDs) were searched. Episodes of minor swelling occurred within the first 2 days after surgery. Neither mucositis nor flap dehiscence had been registered. The mean values of buccal cortical thickness were 2.46 ± 0.49 mm and 1.15 ± 0.33 mm, respectively, in the maxillary and mandibular areas. After 5 years of survey, maxillary increases in alveolar ridge width and volume were +4.4 ± 0.4 mm and +295 ± 45 mm3, respectively, whereas the same outcome variables (+3.5 ± 0.7 mm and +217 ± 53 mm3) measured in the mandible appeared to be significantly smaller than those in the maxilla (P < .0001). One maxillary single implant failed. Cumulative survival rates at 5 years were 100% for mandibles and 95.5% (95% CI: 86.8% to 100%) for maxillae. Posterior areas of the maxilla displayed a higher increase in alveolar width and volume than mandibular areas, and even if it would be premature to draw survival conclusions at this stage without any statistical support, a lower cumulative survival rate was reported for the maxillary single implants.

Berotralstat (BCX7353) is a novel oral prophylactic treatment for hereditary angioedema: Review of phase II and III studies.

Background: Hereditary angioedema (HAE) is a rare genetic disorder characterized by unpredictable and potentially life-threatening episodes of swelling in various parts of the body. These attacks can be painful and debilitating, and affect a patient's quality of life. Every patient who experiences an attack should be treated with on-demand medication to mitigate attack severity and duration. Many patients with HAE also receive long-term prophylaxis to reduce the frequency and severity of edema episodes. Although long-term prophylaxis reduces the disease burden for patients with HAE, available intravenous and subcutaneous treatments are accompanied by a significant treatment burden because of the logistical, emotional, and physical challenges posed by their long-term parenteral nature. Androgens are an effective oral prophylactic treatment; however, they are associated with significant adverse events and are not suitable for all patients. Thus, the HAE community has expressed interest in the development of alternative oral prophylactic therapies for preventing HAE attacks. Objective: Here, we review the phase II and III clinical data of berotralstat (BCX7353), which was approved by the U.S. Food and Drug Administration in December 2020. Results: Berotralstat is an oral, second-generation, synthetic, small-molecule plasma kallikrein inhibitor taken once daily for the prevention of HAE attacks in patients ages ≥ 12 years. Results from the APeX studies (APeX-1 NCT02870972, APeX-2 NCT03485911, APeX-S NCT03472040, APex-J NCT03873116) demonstrated the efficacy of berotralstat as long-term prophylaxis for patients with HAE, which showed a reduction in the attack rate and on-demand medication usage. Berotralstat was well tolerated, and gastrointestinal treatment-emergent adverse events were generally mild and self-limited. Conclusion: Oral berotralstat is an effective and safe long-term prophylactic treatment for patients with HAE that will provide patients unable to tolerate parenteral therapies with the option of disease control. Berotralstat may be associated with reduced treatment burden compared with injectable therapies, highlighting the importance of patient preference with regard to the administration route of their HAE prophylactic treatment.

Child With Neck Lesion.

A 10-year-old girl presented to the emergency department with swelling in the anterior part of her neck (Figure 1). The swelling had been present for 4 days and was increasing in size. The swelling was painful, and the pain was made worse with swallowing. The child had no fever and there had been no drainage from the skin. The patient's mother reported three similar episodes of neck swelling in the past. The patient had normal vital signs. On physical examination, she was found to have an approximately 3 × 4 cm anterior midline submental swelling that was erythematous, firm, tender to palpation, and moved with swallowing.

Physician and patient perspectives on the management of hereditary angioedema: a survey on treatment burden and needs.

Hereditary angioedema (HAE) is a rare disorder caused by genetic mutations that lead to recurrent episodes of swelling in various parts of the body. Prophylactic treatment is common for patients with HAE, and the therapeutic options have expanded in recent years. The current standard of care for prophylactic HAE therapies is subcutaneous treatment, which can be self-administered at home, greatly improving patient quality of life. As new therapies emerge, it is important for patients and physicians to discuss the risks and benefits associated with each treatment to develop an individualized approach to HAE management. We conducted surveys of patients with HAE and physicians who treat patients with HAE to identify prescribing trends for prophylactic HAE treatments and the impact that such treatments has on patients. Our results confirmed that newer, subcutaneous therapies are prescribed for HAE prophylaxis more frequently than other therapies in the United States and that treatment burdens still exist for patients with HAE. We found that physicians and patients were not always aligned on how treatment choices affect patients' lives, which may mean that there are opportunities for enhanced patient-physician dialog and shared decision-making in HAE management in the United States.

Patient perspectives on the treatment burden of injectable medication for hereditary angioedema.

Hereditary angioedema (HAE) is a rare, chronic disease characterized by debilitating swelling episodes in various parts of the body. Patients experience significant burdens related to the symptoms and management of HAE, which can affect their daily lives and reduce their overall quality of life. Prophylactic treatment options have expanded in the past decade to the benefit of patients; however, these therapies require scheduled injections, which can be painful, burdensome, and time consuming. We conducted an online survey of patients with HAE in the USA to better understand their experiences with available prophylactic medications and the associated treatment burdens. Our survey results suggest that most patients are satisfied with their current therapies but desire novel medications with a simpler route of administration and that, although most patients experience significant treatment-related burdens, they learn to cope with these challenges over time.

Caregivers' role in managing hereditary angioedema and perceptions of treatment-related burden.

Hereditary angioedema (HAE) is a rare genetic disease that results in recurrent, debilitating, and potentially life-threatening swelling episodes in the extremities, genitals, gastrointestinal tract, and upper airway. Patients can experience significant burdens related to their disease. Informal or familial caregivers often support patients with HAE and likely share in the disease-related burdens, although there are limited HAE caregiver-focused reports in the scientific literature. In the United States, we conducted an online survey of adults caring for an individual with HAE to better understand their experiences with the disease and identify psychosocial impacts of providing care for a patient with HAE. Thirty caregivers provided responses to the survey. Most caregivers were family members of the care recipient and many had HAE themselves. Caregivers reported participating in a number of medical-related tasks and experiencing some burdens as a result of caring for a person with HAE.

Ventricular Septal Rupture following Anterior Acute Myocardial Infarction: A Challenge to a Sub-District Physician

Background: Ventricular septal rupture (VSR) is one of the most serious mechanical complications following acute myocardial infarction (AMI). Although a rare complication, it is associated with significant mortality and morbidity. The purpose of this report was to present a case of VSR following anterior AMI in our hospital.&#x0D; Case Description: A 54-year old Javanese male presented persistent episode of breathlessness and lower limb swelling for the last two days with prior chest pain 7 days ago. Physical examination revealed a grade 3/6 holosystolic murmer loudest over the apex, S3 gallop, rales bibasally of the lung. Electrocardiographic evidence revealed for a recent anterior myocardial infarction. Chest X-Ray showed a cardiomegaly and pulmonary congestion. Transthoracic echocardiography revealed VSR at mid-anteroseptal with estimated length of 8-10 mm, preserved LVEF 51% with mid-apicoseptal akinesis. Multiple readmissions were noted for this patient in the follow-up with worsened conditions.&#x0D; Discussion: This is a challenging case report since our hospital is an incapable cath-lab sub-district hospital and far from PCI-capable center. It is critical that all patients with AMI have a brief evaluation for mechanical complications such as VSR. All patients who developed hemodynamic instability during AMI should be comprehensively examined for the murmur and any other heart sound that may provide valuable information.&#x0D; Conclusion: Every clinician especially in the low-resource setting should be aware of this potentially fatal mechanical complication as the mortality remains significantly high. Early prompt diagnosis and treatment is the key of achieving an optimal outcome.

Therapeutic management of hereditary angioedema: past, present, and future.

Hereditary angioedema is a rare disease that can often be disabling or even life threatening because of the unpredictable, self-limiting, and localized swelling episodes involving cutaneous, subcutaneous, and mucosal sites. The last decades revealed a spectrum of possibilities to control the disease through the development of effective therapies that changed the life of many patients and families worldwide.This review summarizes the current literature regarding the general management and therapeutic approach in patients with hereditary angioedema, both with and without C1 inhibitor deficiency. Medications already available in the market and new drugs in different research stages of development are addressed.Recent decades saw a huge leap in identifying mechanisms of angioedema and developing modern safe and effective medications to both treat acute angioedema manifestations and control disease activity via prophylactic therapy. Further improvement is still needed, together with improving global accessibility of diagnostic tools and effective medications. Whether novel drugs will demonstrate a sustained cost/effectiveness ratio will be answered in the years to come when we will witness whether a majority of the patients will benefit from these major advances.

Pathways of Neutrophil Granulocyte Activation in Hereditary Angioedema with C1 Inhibitor Deficiency

Hereditary angioedema (HAE) with C1-inhibitor deficiency belongs to bradykinin-mediated angioedemas. It is characterized by recurrent subcutaneous and/or submucosal swelling episodes (HAE attacks) and erythema marginatum skin rash as a pre-attack (prodromal) phase. HAE attacks were shown to be accompanied by peripheral blood neutrophilia. We aimed to find molecular mechanisms that may explain the distinct role of neutrophil granulocytes in HAE. Plasma levels of blood cells and factors related to neutrophil activation (cytokines, chemokines, chemotactic factors, enzymes, and neutrophil extracellular trap) were measured in plasma samples obtained from patients during symptom-free periods (n = 77), during prodromal phase (n = 8) and attacks (n = 14), during a spontaneously resolved attack (n = 1), and in healthy controls (n = 79). Higher counts of white blood cells, lymphocytes, and neutrophil granulocytes were found in symptom-free patients compared with controls; these cell counts were elevated further during HAE attacks. The level of chemokine (C–C motif) ligand 5, monocyte chemoattractant protein-1, and myeloperoxidase were also higher in the symptom-free patients than in the controls. Levels of monocyte chemoattractant protein-1, leukotriene B4, neutrophil elastase, and myeloperoxidase were elevated during attacks. During erythema marginatum, white blood cells and monocyte count and levels of interleukin 8 were elevated compared with symptom-free period. Similar changes were detected during the attack follow-up. We conclude that the activation of NGs in symptom-free periods and a further increase observed during attacks suggests that NGs may be involved in the pathomechanism of HAE with C1-INH deficiency.

Efficacy of lanadelumab in acquired angioedema with C1-inhibitor deficiency

Acquired angioedema with C1-inhibitor deficiency (C1-Inh AAE) is a rare, life-threatening disease.1 Like the C1-Inh hereditary angioedema (C1-Inh HAE), it is characterized by transient recurrent subcutaneous and/or submucosal swelling episodes, which mainly affect the skin, gastrointestinal tract, and upper airways.1 However, contrary to the hereditary form, C1-Inh AAE has a late onset (>40-year-old), with no family history1 and is often associated with B-cell lymphoid hemopathy or monoclonal gammopathy.

Understanding Disease Mechanisms of Hereditary Angioedema With Potential Therapeutic Implications Through RNA Sequencing Transcriptome Profiling

A genetic deficiency/dysfunction of C1-esterase inhibitor (C1Inh) characterizes hereditary angioedema (HAE), manifested by episodic swellings (flares) of subcutaneous tissues, bowel walls, and upper airways. Genomic profiling of these patients during flares and quiescence, to determine variations in gene expression, can improve our understanding of HAE and recognition of novel therapeutic targets.

The Role of the Plasminogen Activation System in Angioedema: Novel Insights on the Pathogenesis.

The main physiological functions of plasmin, the active form of its proenzyme plasminogen, are blood clot fibrinolysis and restoration of normal blood flow. The plasminogen activation (PA) system includes urokinase-type plasminogen activator (uPA), tissue-type PA (tPA), and two types of plasminogen activator inhibitors (PAI-1 and PAI-2). In addition to the regulation of fibrinolysis, the PA system plays an important role in other biological processes, which include degradation of extracellular matrix such as embryogenesis, cell migration, tissue remodeling, wound healing, angiogenesis, inflammation, and immune response. Recently, the link between PA system and angioedema has been a subject of scientific debate. Angioedema is defined as localized and self-limiting edema of subcutaneous and submucosal tissues, mediated by bradykinin and mast cell mediators. Different forms of angioedema are linked to uncontrolled activation of coagulation and fibrinolysis systems. Moreover, plasmin itself can induce a potentiation of bradykinin production with consequent swelling episodes. The number of studies investigating the PA system involvement in angioedema has grown in recent years, highlighting its relevance in etiopathogenesis. In this review, we present the components and diverse functions of the PA system in physiology and its importance in angioedema pathogenesis.

Characteristics of patients with C1 esterase inhibitor deficiency: a single center study.

Hereditary angioedema (HAE) is a primary complement factor deficiency, characterized by recurrent submucosal/subcutaneous swelling episodes. SERPING1 gene defects encoding C1 esterase inhibitor (C1INH) are responsible from the disease. Fifteen patients with HAE are retrospectively evaluated in this study. All patients (n = 15) had HAE type I, 13 were from the same family, other two from two different families. Median age at onset of symptoms was 7 years (2-20); median age on diagnosis, 12 (0,5-41) and median delay in diagnosis, 3 years (0-33). Clinical symptoms were extremity edema(92,3%), facial edema(46%), abdominal pain (46%), genital edema (46%), and laryngeal edema (23%). Some patients suffered from recurrent abdominal pain, had been empirically given colchicine with familial mediterranean fever (FMF) when they admitted. One presented with bullous skin eruption, soon after developed extremity edema. Both resolved spontaneously after C1INH concentrate therapy. Two females suffered from recurrent genital edema after sexual activity. One patient experienced compartment syndrome-like swelling of extremity after playing football. One patient diagnosed with panic attack due to fear of death by asphyxiation, and was diagnosed with HAE disease. A nonsense mutation in exon 8, a missense mutation in exon 2 in SERPING1 gene was present in Family 1 and another patient (P14) from the other family, respectively. Sporadic/autosomal dominant inheritance ratio was 2/3 in the families present in our series. Patients with HAE presents with a large spectrum of symptoms. In mediterranean countries, patients with abdominal attacks may be misdiagnosed with FMF. Thus, health-care professionals should be alert, and put HAE in the first line of differential diagnoses when the disease symptoms are present. Consequently, morbidity/mortality will decrease with effective treatment options.

Real World Data of Canadian Adults Living with Angioedema: Part 4 - Health Economic Burden

Hereditary angioedema (HAE) is a rare inherited disorder characterized by recurrent painful episodes of severe swelling in different parts of the body. The direct health care costs of HAE are significant but are little studied. We sought to understand the health care utilization of patients with HAE in Canada

Deep Sedation for Pediatric Parotid Sialendoscopy in Juvenile Recurrent Parotitis.

Sialendoscopy is a minimally invasive diagnostic and therapeutic tool for juvenile recurrent parotitis (JRP); the procedure is under general anesthesia, but local anesthesia has been used for sialendoscopy in children >8 years. Based on the experience in children with sedation for gastrointestinal endoscopy, we investigated the reliability and safety of deep sedation for sialendoscopy in JRP. Six children (3 females, 6–13 years) with episodes of parotid swelling underwent interventional (duct dilation and steroid irrigation) sialendoscopy with intravenous bolus of 1 mg/kg propofol and 1 mcg/kg fentanyl, and continuous infusion of 2 mg/kg/h propofol. Sialendoscopy under deep sedation was successfully performed in all the patients; the procedure was well tolerated, without any adverse effects. One event of full awakening was registered and promptly solved without needing to interrupt the procedure. Effectiveness of sialendoscopy under deep sedation was subjectively attested by high positive scores obtained at post-operative standardized questionnaires administered to the patients and their parents, and objectively by the lack of clinical recurrences during the follow-up. The combination of propofol and fentanyl seems to be a reliable and safe means of sedating children with JRP undergoing sialendoscopy.

Psychological processes in the experience of hereditary angioedema in adult patients: an observational study

BackgroundHereditary angioedema associated to C1 inhibitor deficiency (C1-INH-HAE) is a pathological condition characterized by episodes of subcutaneous swelling and it is frequently associated with discomfort and social impairment of the patients, due to the anxiety experienced for an unpreventable manifestation of an attack during daily life. In children increased level of stress and alexithymia have been associated to C1-INH-HAE, and the latter correlated also with the severity of the disease. We hypothesized that the involvement of psychological issues may impact on the severity of C1-INH-HAE in adult patients as well, interfering with their ability to engage with the management of the disease.Methods28 adult patients with C1-INH-HAE were evaluated for clinical (C1-INH-HAE Severity Score) and psychological factors (alexithymia, emotion regulation, stress, patient health engagement, general severity index) by means of validated questionnaires.ResultsMean age (standard deviation [SD]) was 45 (11) years and time from diagnosis was 20 (12) years. The mean C1-INH-HAE severity score was 6.4. Alexithymia was absent in 22 (78%) patients. Moderate and high stress levels were present in 17 (61%) and 4 (14%) patients, respectively. Moderate-high discomfort was experienced by 9 (36%) patients and a discomfort beyond the clinical attention threshold was shown by 3 (12%) patients. Stress correlated with patient health engagement and with psychological discomfort.ConclusionsIn C1-INH-HAE, patients health engagement and moderate-high psychological discomfort are linked with stress but not with the severity of the disease or alexithymia. A better patient health engagement may be a target for psychological intervention in clinics to ameliorate the stress perceived by C1-INH-HAE patients.

Hereditary angioedema patients would prefer newer-generation oral prophylaxis

Objective To explore treatment preferences of patients with Hereditary Angioedema (HAE), a debilitating disorder characterized by potentially life-threatening, recurrent episodes of swelling, resulting in significant physical, emotional, and economic burden. With newer oral prophylactic treatments on the horizon, it is important to understand patients’ preferences. Methods An online survey was conducted in 2018 among United States (US) adult patients diagnosed with Type I or II HAE. Respondents were recruited anonymously from online panels and social media. Results Online surveys were completed by 75 patients diagnosed with HAE by a healthcare provider, with a mean of 16.7 years since diagnosis. Most patients (64%) report taking at least one medication for prophylaxis of HAE attacks. While almost all patients surveyed agree it is important to take preventative medication as prescribed, over half (52%) of patients report HAE prophylactic treatment to be burdensome. Despite stating that they like their current medications, 98% of the prophylactic HAE medication users would prefer an oral treatment if available; almost all (96%) prophylaxis users agree that oral preventative medication would fit their life better than an injectable medication, with 67% of users citing convenience as the primary reason to try an oral preventative HAE medication. If a more convenient option were available, nearly all (96%) patients currently not treating their HAE prophylactically would feel encouraged to do so. Conclusions Most patients with HAE would prefer a newer generation oral prophylactic medication that would decrease treatment burden and allow them to live fuller lives.

Purpuric lesion in a patient with leprosy: Was it a Lucio’s phenomenon or an epiphenomenon?

Background:&nbsp; Lucio&rsquo;s phenomenon (LP) is a severe necrotizing cutaneous reaction that occurs in patients with&nbsp; Lucio &rsquo;s&nbsp; leprosy. The exact pathomechanism is not fully understood, but typically abundant acid-fast bacilli in the walls of blood vessels point to direct perturbation of blood supply to the epidermis. We report a case of LP where epidermal necrosis occurred in the absence of vascular invasion by mycobacteria, raising the question whether this was an epiphenomenon or a true LP. Case Illustration:&nbsp; A 34-year-old male was referred for an episodic swelling of his hands and feet that persisted for two years. There were signs of leprosy (diffuse shiny skin lesions, anesthesia, and anhidrosis of the extremities) with purpuric patches on lower extremities. The slit-skin smear test revealed a high index of acid- fast bacilli. Histopathological examination revealed epidermal necrosis and leukocytoclastic vasculitis without demonstrable bacillus. WHO multidrug regimen for leprosy and corticosteroids successfully cured the patient and prevented ulcer development. Discussion:&nbsp; Despite the presence of classical LP characteristics clinically and histologically, mycobacterium was absent in the&nbsp; vessels&rsquo; walls . We hypothesized that, in LP, vascular impairment might also be secondary due to antigen &ndash; antibody reaction and hypercoagulable state. Conclusion:&nbsp; Purpuric patches in Lucio &rsquo;s&nbsp; leprosy might be the first sign of skin necrosis or vascular damage (purpura and ulceration). Besides the antimycobacterial drugs, anti-inflammatory drugs should be administered. Laboratory test for hemostasis might be advised. Keywords:&nbsp; Lucio&rsquo;s phenomenon, mycobacteria, histopathology,&nbsp; vasculitis

Red flags for the differential diagnosis of granulomatous mastitis: a case report

BackgroundGranulomatous mastitis (GM) is a rare benign chronic inflammatory breast disease. GM presents as a heterogeneous illness with variable clinical presentations, and its diagnosis is usually made by exclusion. There are no guidelines for the treatment of GM. This manuscript describes the management of a patient with GM, initially unsuccessfully treated outside our clinic under a diagnosis of mastitis. The patient’s history, physical examination, and needle biopsy flagged the patient’s findings as nonmalignant; however, imaging studies indicated a tumor. Differential diagnosis became a critical element of her care. This case report represents a valuable resource to foster more assertive clinical practice in managing patients with GM. The case coordination and its course were led by a team from an outreach clinic that provides health care services to underserved communities in the state of Michigan.Case presentationA 41-year-old G1P1 Hispanic female immigrant from Central America presented with a rare breast disease, granulomatous mastitis. A similar presentation occurred 5 years before pregnancy when she had an episode of pain and swelling in the left breast, which resolved spontaneously. She sought our services after being diagnosed with mastitis that was unsuccessfully treated. Physical examination revealed a nodular mass in the outer quadrants of the left breast without regional lymphadenopathy. Needle biopsy showed fibrohistiocytic and florid inflammatory reactions, with no evidence of invasive carcinoma. However, this result was inconsistent with the degree of abnormality revealed by the mammogram (BI-RADS grade 5), ultrasound, and physical examination. Full incisional biopsy revealed cystic neutrophilic GM. The surgical procedure, antibiotics, and corticosteroids resulted in a successful combination to secure the stable control of the symptoms and progression of this rare benign breast disease to date.ConclusionsThis patient’s case highlights the importance of integrated communication among front-line primary care and other health care professionals to reduce the risk of invasive procedures and avoid institutional costs. GM is a rare disease. We raised the manifold red flags in which the multiple professional chains recruited to care for this patient were concerning for advanced breast cancer. The lack of experience and evidence-based medicine contributed to the contradictory interpretation of the findings on GM's diagnosis.