Thoracic Syndrome Research Articles

Diagnostic imaging in the evaluation of patients with Sickle Cell Anemia in Acute Thoracic Syndrome

Diagnostic imaging in the evaluation of patients with Sickle Cell Anemia in Acute Thoracic Syndrome

Problems of diagnosis and treatment of chronic pain syndrome in patients with variants of the structure of peripheral nerves. A series of clinical cases

AIM: To assess the presence of variants of the structure of peripheral nerves as possible risk factors for chronic pain syndrome on the example of a series of clinical cases.
 MATERIALS AND METHODS: The systematization and analysis of data from domestic and foreign literature on pathophysiology, clinic, diagnosis and treatment of complex regional pain syndrome has been carried out. Research method: system analysis, presentation of a series of clinical cases.
 RESULTS: A series of clinical cases is presented. The main risk factors for chronic pain syndrome are presented. The conditions and diseases that need to be differentially diagnosed if complex regional pain syndrome is suspected are systematized: tunnel syndromes (carpal tunnel syndrome), diabetic polyneuropathy, HIV polyneuropathy, postherpetic neuralgia, neurogenic claudication/lumbar stenosis, central post-stroke pain, upper thoracic syndrome apertures.
 CONCLUSION: Today, practitioners and neurophysiologists are not sufficiently aware of the existence of interneural anastomoses and features, typical electroneuromyographic signs, as a result of which in most cases the obtained electroneuromyographic data are interpreted erroneously. Variants of the structure of nerves can give an incorrect clinical picture of the condition of peripheral nerves and lead to untimely diagnosis and treatment of chronic pain syndrome, complex regional pain syndrome. Improvements in diagnostic methods, as well as widely introduced high-tech examination methods, in particular electroneuromyography, magnetic resonance imaging and ultrasound, are helping to increase the frequency of detection of abnormalities in the structure of peripheral nerves. In the presented clinical cases, patients had structural variants that gave an incorrect clinical picture of the condition of the peripheral nerves and led to untimely diagnosis and treatment — the development of chronic pain syndrome.

Effects of Diaphragmatic Breathing in Sickle Cell Disease Patients: Preliminary Data

Introduction: Sickle cell disease (SCD) can be defined as an autosomal recessive disease, characterized by hemolytic anemia, progressive lesions in most organs and vaso-occlusive crises. Affected individuals suffer from severe pain due to vaso-occlusion and ischemic damage. Acute and chronic pulmonary complications including acute thoracic syndrome, pulmonary hypertension, thromboembolism, sleep-disordered breathing and asthma are among the leading causes of morbidity and mortality of SCD individuals. Dyspnea may be present due to pulmonary involvement, exercise intolerance, as well as a feature of pulmonary complications or due to the complications inherent to SCD. The practice of diaphragmatic breathing (DB) has been shown to improve exercise tolerance, reduce dyspnea and increase inspiratory muscle strength in several diseases, especially asthma and chronic obstructive pulmonary disease. However, the effects of this breathing exercise are not yet known in patients with SCD. Thus, the aim of this study was to evaluate the effects of BD in patients with SCD. Methods: The study was approved by the UNICAMP ethics committee and all the patients who agreed to participate signed a written informed consent form. Participants were randomly divided into a control group (CG) and an intervention group (IG). The IG was instructed to do 3 sets of 20 repetitions per day of DB at home, 5 times a week. They were instructed to write down the date and time of DB, as well as justify any reason that prevented them from carrying out the training at some point. Patients in both groups were contacted weekly via the smartphone messaging application (app). In the case of IG patients, this contact aimed to reinforce the importance of continuing the intervention protocol. For the CG participants, the weekly contact was important in order avoid a bias of the GI participants alone receiving continuous attention from the researchers. In addition, once a week, IG participants had to record and send a video via the smartphone messaging app showing how they were doing the exercise. The video was analyzed and the patient received feedback, also via messaging app, from the researchers with compliments or suggestions for corrections regarding the practice of DB. Thus, there was constant monitoring of the implementation of the intervention protocol seeking to maintain patient adherence to the training protocol. The CG did not perform any breathing exercises during the study. The effects of DB on SCD patients were evaluated twice, the initial evaluation (IE) and final evaluation (FE), performed with a 12-week interval and consisted of the application of the Modified Medical Research Council Scale (mMRC), assessment of the maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP), volumetric capnography (VCap) and 6-minute walk test (6MWT). Comparison between groups was performed using the Mann-Whitney and Fisher's exact tests. Within-group comparisons of BD effects were performed using Wilcoxon's Sign Rank Test. The comparison between groups was performed with the Mann-Whitney Test with Bonferroni correction. Results: 19 patients completed the 12 weeks between IE and FE. There were no significant differences between CG (n=9) and IG (n=10) based on age (p=0.1619), sex (p=0.0698), body mass index (p=0.5490) or severity of genotype (n=13 HbSS, 4 HbSC, 1 HbSβ0 and 1 HbSβ +) with p=0.9879. At the end of the DB protocol, in the within-group comparations, the IG presented significant changes in MIP (p=0.0117) and among the variables measured by VCap, such as inspiratory tidal volume (p=0.0371), expiratory tidal volume (p=0.0371), Tobin index (p=0.0488) and oxygen saturation (p=0.0488). No significant alterations were observed in the other variables evaluated in between-group comparisons. The CG showed no significant change in any of the comparisons. Conclusions: DB is an exercise that can be easily applied to outpatients with SCD, allowing for an improvement in inspiratory muscle strength, VCap and favoring blood oxygenation in these individuals. Funding: FAPESP 2017/21801-2; CNPq grants #303405/2018-0; #405918/2022-4 - Instituto Nacional de Ciência e Tecnologia do Sangue (INCT do Sangue).

Acute Thoracic Syndrome in Children: Epidemiological, Diagnostic and Evolutionary Aspects at the Albert Royer National Children’s Hospital in Dakar Senegal

Acute Thoracic Syndrome in Children: Epidemiological, Diagnostic and Evolutionary Aspects at the Albert Royer National Children’s Hospital in Dakar Senegal

Síndrome torácica aguda em paciente escolar com doença falciforme: um relato de caso

OBJECTIVE: To describe the case of a male pediatric patient with acute thoracic syndrome (ATS) in sickle cell anemia, linking it to the medical literature. CASE DESCRIPTION: A 9-year-old male patient, developed strong pain associated to headache and priapism, hence admitted to the emergency of a tertiary referral hospital. A priapism relief was noticed after hydration and morphine sedation. He developed severe acute thoracic syndrome, pneumonia and pleural effusion. The use of cefotaxime, clindamycin and clarithromycin was started. Mechanical ventilation was necessary and the patient was sent to the intensive care unit. On the tenth day, patient developed sepsis consequently cefotaxime and clindamycin were interrupted and piperacilin + tazobactam + linezoline were introduced. Kept clarithromycin. On the twelfth day, he had prophylaxis for pulmonary thromboembolism (TEP) with enoxaparin due to the expanded D-dimer. A second TEP was confirmed after some days. Three blood transfusions were needed during the hospitalization. He recovered gradually and was discharged on the thirty-sixth day keeping on thromboembolism prophylaxis until his return for other tests. COMMENTS: Patient had the infection and pulmonary thromboembolism as possible causes to trigger the acute thoracic syndrome. As observed in the medical literature, the pain crises anticipated the ATS. Alterations were observed on the laboratorial tests and imaging exams compatible with cases described by other authors. The good progress was the reflex from the adequate diagnosis and treatment.

An Approach for Thoracic Syndrome Classification with Convolutional Neural Networks.

There have been remarkable changes in our lives and the way we perceive the world with advances in computing technology. Healthcare sector is evolving with the intervention of the latest computer-driven technology and has made a remarkable change in the diagnosis and treatment of various diseases. Due to many governing factors including air pollution, there is a rapid rise in chest-related diseases and the number of such patients is rising at an alarming rate. In this research work, we have employed machine learning approach for the detecting various chest-related problems using convolutional neural networks (CNN) on an open dataset of chest X-rays. The method has an edge over the traditional approaches for image segmentation including thresholding, k-means clustering, and edge detection. The CNN cannot scan and process the whole image at an instant; it needs to recursively scan small pixel spots until it has scanned the whole image. Spatial transformation layers and VGG19 have been used for the purpose of feature extraction, and ReLU activation function has been employed due to its inherent low complexity and high computation efficiency; finally, stochastic gradient descent has been used as an optimizer. The main advantage of the current method is that it retains the essential features of the image for prediction along with incorporating a considerable dimensional reduction. The model delivered substantial improvement over existing research in terms of precision, f-score, and accuracy of prediction. This model if used precisely can be very effective for healthcare practitioners in determining the thoracic or pneumonic symptoms in the patient at an early stage thus guiding the practitioner to start the treatment immediately leading to fast improvement in the health status of the patient.

Manual medicine, manual therapy

AbstractManual medicine is the medical discipline that deals with diagnosis, treatment, and prevention of reversible functional disturbances in the locomotor system and other related organ systems. The current article illustrates neuroanatomical and neurophysiological fundamentals of the mechanisms of manual diagnostics and treatment. Based on the recent literature and consideration of different scientifically based clinical guidelines, the evidence-based effectiveness of manual therapeutic procedures is presented. Acute and chronic low back pain, cervicogenic headache, neck and shoulder pain, radicular arm pain, dysfunctional thoracic pain syndromes, diseases of the rotator cuff, carpal tunnel syndrome, and plantar fasciitis are included. Clinical case studies illustrate the clinical procedures. The term, the origin, and the clinical presence of “osteopathy” are addressed in detail, and the national and international societies of manual medicine (Deutsche Gesellschaft für Manuelle Medizin [DGMM], European Scientific Society of Manual Medicine [ESSOMM], Fédération Internationale de Medicine Manuelle [FIMM]) are portrayed lexically. Finally, contraindications to manual intervention are presented and an outlook on the requirements and possibilities of scientific pain analysis is given in accordance with the preamble of the Deutsche Gesellschaft für Orthopädie und Orthopädische Chirurgie (GSOOC) guidelines on specific low back pain.

Antioxidant and anti-sickling activity of glucal-based triazoles compounds – An in vitro and in silico study

The sickle cell disease (SCD) has a genetic cause, characterized by a replacement of glutamic acid to valine in the β-chain of hemoglobin. The disease has no effective treatment so far, and patients suffer a range from acute to chronic complications that include chronic hemolytic anemia, vaso-occlusive ischemia, pain, acute thoracic syndrome, cerebrovascular accident, nephropathy, osteonecrosis and reduced lifetime. The oxidation in certain regions of the hemoglobin favors the reactive oxygen species (ROS) formation, which is the cause of many clinical manifestations. Antioxidants have been studied to reduce the hemoglobin ROS levels, and in this sense, we have searched for new antioxidants glucal-based triazoles compounds with anti-sickling activity. Thirty analogues were synthetized and tested in in vitro antioxidant assays. Two of them were selected based in their effects and concentration–response activity and conducted to in cell assays. Both molecules did not cause any hemolysis and could reduce the red blood cell damage caused by hydrogen peroxide, in a model of oxidative stress induction that mimics the SCD. Moreover, one molecule (termed 11m), besides reducing the hemolysis, was able to prevent the cell damage caused by the hydrogen peroxide. Later on, by in silico pharmacokinetics analysis, we could see that 11m has appropriated proprieties for druggability and the probable mechanism of action is the binding to Peroxiredoxin-5, an antioxidant enzyme that reduces the hydrogen peroxide levels, verified after molecular docking assays. Thus, starting from 30 glucal-based triazoles molecules in a structure–activity relationship, we could select one with antioxidant proprieties that could act on RBC to reduce the oxidative stress, being useful for the treatment of SCD.

Severe COVID-19 with acute respiratory distress syndrome (ARDS) in a sickle cell disease adult patient: case report

BackgroundSickle-cell anaemia is a widespread genetic disease prevalent worldwide among African and African-American populations. The pathogenesis is most often revealed by pulmonary conditions, including acute thoracic syndrome, which is affecting the life expectancy of these populations. The global spread of CoV2-SARS infection with a respiratory tropism, endothelial damages and procoagulant status endangers the SCD population. However, with only a few case reports, consequences of the Covid-19 pandemic on SCD population remain poorly known.Case presentationWe report a case of a 33-year-old man with a history of homozygous SS homozygous sickle cell anemia who consulted on March 24, 2020 for febrile dyspnea 11 days after the onset of symptoms. A nasopharyngeal swab was positive for SARS-CoV-2. His respiratory status worsened rapidly in the emergency room and then in ICU leading to severe ARDS requiring intubation, curarization, and venovenous ECMO. Hematologically, severe hemolysis associated with major thrombocytopenia without documented spinal cord injury was noted. Several transfusion exchanges are performed. The evolution was finally slowly favorable and led to discharge from the intensive care unit and then from the hospital.ConclusionsThis case recalls the importance of an increased prevention policy against COVID-19among the SCD population. In addition, from a therapeutic point of view, it advocates (1) a high preventive anticoagulation from the outset according to the level of D-dimers (2) the use of venovenous ECMO in this particular case, whereas this technique has had rather disappointing results in acute chest syndromes. (3) Unexpectedly, our patient did not develop pulmonary arterial hypertension (PAH) and acute cor pulmonale (ACP), whereas this is a common feature of ARDS during SCD. These last two observations suggest a different pathophysiology of pulmonary disorders in SCD patients in the case of SARS COv2. It could be associated with marked hypoxemia secondary to pulmonary vascular vasodilation.

Avaliação das internações hospitalares por eventos agudos em pacientes pediátricos portadores de doença falciforme em um hospital de referência em Salvador/BA

OBJECTIVES: Identify the main causes of hospital admissions of patients less than 18 years old with sickle cell disease (SCD) in a reference hospital of Salvador, BA and describe the sociodemographic profile, cost and duration of admission and outpatient follow-up in our sample. METHODS: Cross-sectional study of admissions of patients of less than 18 years old with SCD (IDC D57.0, D57.1, D57.2, D57.8) from January 2013 to June 2018, at a reference hospital in Salvador, BA. Clinical and demographic variables were extracted from patient charts, such as gender, age, hemoglobin genotype, admission cause and cost. Data was analyzed using descriptive statistics and hypothesis testing with chi-square, Students t, Mann-Whitney and Fishers exact test using the Statistical Package for the Social Sciences v. 23.0. Research was aproved by the ethics and research committee for human beings research of Obras Sociais Irmã Dulce. RESULTS: 53 admissions were analyzed, with vaso oclusive event as the main cause (20-37.7%), followed by infection (15-28.3%) and acute thoracic syndrome (8-15.1%). 23 (73.58%) of admissions happened in the first decade of life (p=0,008). Only 4 (7.5%) of patients used hydroxiurea. 45.3% admissions happened in the fall and 11.3% in spring (p=0,04). CONCLUSION: Despite the inversion of the main causes of hospitalization, they are still the most prevalent, reinforcing the possibility of need for better adherence to prophylactic measures and better access to outpatient treatment with hydroxyurea in structured and well-distributed network.

Rare observation of bilateral pneumothorax at patient with bullous emphysema of the contralateral lung and mediastinal hernia after pneumonectomy: case report

Background. Pneumothorax is the most common surgical complication of bullous emphysema, and extremely rare in patients with a single lung. We present our clinical study of a patient with bilateral pneumothorax and bullous emphysema of the single lung and mediastinal hernia diagnosed 40 years after pneumonectomy. Methods. A case report of a patient with bilateral pneumothorax is presented. Patient F., 44 years old, was admitted with complaints on thoracic pain syndrome and respiratory failure. In the previous history of the patient there were mentions of surgery on the left lung without documentary clarification. Routine radiography of the lungs made it possible to diagnose bilateral pneumothorax and postoperative changes of the left hemithorax. Further examination, including computed tomography of the chest and fiber-bronchoscopy, revealed that the patient has emphysematous single right lung, mediastinal pulmonary hernia with the formation of a single pleural cavity, bilateral pneumothorax as a complication and consequence of two previous conditions and due to pneumonectomy in the childhood. The patient underwent a re-draining of the pleural cavity with the elimination of pneumothorax and clinical recovery. The patient refused of antirelapse surgery. Subsequently, he was at the dispensary observation. Results. The most frequent and regular evolution of the residual pleural cavity after pneumonectomy is to fill it with an effusion with subsequent obliteration. The formation of a mediastinal hernia is an extremely rare phenomenon, that has not yet been studied. The tactics of treatment of such patients should be individual, taking into account the revealed changes, the functional state of the respiratory and cardiovascular systems, and the dynamic of the disease. Conlusions. Our study demonstrated a rare clinical case of mediastinal pulmonary hernia after pneumonectomy and the development of bilateral pneumothorax after the rupture of a single lung bull. Modern image diagnostics make it possible to identify the nature of existing changes and clarify their nature even in the absence of accurate anamnestic data.

Thoracic Air Leak Syndrome: A Rare and Fatal Complication of Allogeneic Stem Cell Transplant

Thoracic air leak syndrome (TALS) is a rare complication of allogeneic stem cell transplant (Allo-SCT) and is associated with a poor prognosis. We report a case of a 67-year-old male, after 20 months of Allo-SCT for acute myeloid leukemia, who presented with fever and acute worsening dyspnea on a background of a 4-month history of slowly progressive dyspnea. He was initially diagnosed with parainfluenza pneumonia and later developed TALS as a result of bronchiolitis obliterans (BO) caused by chronic graft-versus-host disease (cGVHD). Herein, we highlight the importance of early recognition and treatment of non-infectious pulmonary complications of Allo-SCT.

Acute Thoracic Syndrome in Sickle Cell Children at the Pediatrics Department of Donka National Hospital

Introduction: Acute thoracic syndrome is the appearance of a new pulmonary infiltrate on radiology associated with fever, desaturation or respiratory signs. It is the second leading cause of hospitalization and the first cause of death in sickle cell patients. It is an acute pulmonary complication whose pathophysiological mechanisms are still poorly understood. This study aims to study the epidemiological, clinical, therapeutic and evolutionary aspects of Acute Chest Syndrome in children at the Pediatrics Department of Donka National Hospital. Method: This is a prospective study of descriptive type for a period of 6 months from February 19 to August 19, 2019 on patients with sickle cell disease who developed an ATS in the pediatrics department of Donka National Hospital. Epidemiological, clinical, therapeutic and evolutionary data were studied and proportionate data were calculated. Results: The frequency of ATS was 39%. The mean age of our patients was 9.83 years with the extremes of 4 and 16 years. The age group from 6 to 10 years with a frequency of 66.7% was the most affected. Fever was the main clinical manifestation, followed by hepatomegaly. All our patients were homozygous SS and undergoing folic acid prophylaxis. 96% of our patients did not receive any specific vaccine. Antibiotic therapy, hyperhydration and analgesics were administered to all our patients. 96% of our patients were transfused with red blood cell concentrate. 96% of our patients were transfused with packed red blood cells. 96% of our patients were transfused with packed red blood cells and 96% of them had a favorable outcome. Conclusion: ATS is an acute complication of sickle cell disease responsible for significant mortality and morbidity in the pediatric population. Its treatment is symptomatic and must be started early. Emphasis must be placed on prevention to prevent or limit its occurrence.

Thoracic stomach syndrome after whole-stomach esophagectomy for esophageal cancer mimicking tension pneumothorax: a case report

BackgroundSudden onset of respiratory failure is one of the most fearful manifestations in intensive care units. Among the differential diagnoses of respiratory failure, tension pneumothorax is a life-threatening disease that requires immediate invasive intervention to drain the air from the thoracic cavity. However, other etiologies with manifestations similar to those of tension pneumothorax should also be considered after whole-stomach esophagectomy for esophageal cancer. We report a rare case of a patient with thoracic stomach syndrome mimicking tension pneumothorax after esophagectomy with whole-stomach reconstruction.Case presentationA 49-year-old Asian woman was admitted to our intensive care unit after esophagectomy for esophageal cancer with whole-stomach reconstruction while under sedation and intubated. Despite initial stable vital signs, the patient rapidly developed tachypnea, low blood pressure, and low oxygen saturation. Chest radiography revealed a mediastinal shift and led to a presumptive diagnosis of tension pneumothorax. Hence, an aspiration catheter was inserted into the right pleural space. However, her clinical symptoms did not improve. Chest computed tomography was performed, which revealed a significantly distended reconstructed stomach that was compressing the nearby lung parenchyma. Her respiration improved immediately after nasogastric tube placement. After the procedure, we successfully extubated the patient.ConclusionsSimilar to tension pneumothorax, thoracic stomach syndrome requires immediate drainage of air from the thoracic cavity. However, unlike tension pneumothorax, this condition requires nasogastric tube insertion, which is the only way to safely remove the accumulated air and avoid possible complications that could occur due to percutaneous drainage. For patient safety, it might be clinically important to place nasogastric tubes after esophagectomy with whole-stomach reconstruction, even if radiographic guidance is required. In addition, clinicians should consider thoracic stomach syndrome as one of the differential diagnoses of respiratory failure after whole-stomach esophagectomy.

Homozygous Sickle Cell Children Treated with Hydroxyurea inBrazzaville (Congo)

The objective of this study is to reduce the morbidity of children with homozygous sickle cell disease presenting severe forms. We have conducted a longitudinal study between November2015 and September2017 at the Brazzaville University Hospital. Children with sickle cell disease requiring treatment with hydroxyurea were included. The variables studied were therapeutic compliance, evolutive profile of nutritional status, indications of hydroxyurea, electrophoresis of hemoglobin, blood count, and toxicity. The statistical test used was Student test with a significance threshold of less than 0.05. One thousand twenty-four children were monitored for sickle cell disease, 107of which had received hydroxyurea (10.4%). The indications for hydroxyurea were recurrent anemic attacks (≥ 4) in 62cases (57.9%), neurological crises 19cases (17.8%), recurrent hyperalgesic crises in 17cases (15.9%), priapism in 4cases (3.7), and acute thoracic syndrome in 2cases (1.9%). Therapeutic compliance was good in 89.5% of them. A rapid and lasting clinical improvement was noted in the majority of patients with hyperalgesic attacks (88.2%) and anemic attacks (88.7%), two recurrences for the cerebrovascular accidents, and an absence of recurrence of priapism and of the acute thoracic syndrome. From the biological point of view, there was a significant increase in fetal hemoglobin (1.2 to 16.2%; P < 0.05), hemoglobin (7 to 8.3g/dl; P < 0.05), mean cell volume (80.8 to 96fl; P < 0.05) and a significant decrease in mean white blood cell count (15,633 to 9,872/mm3; P < 0.05) and platelets (387,002 to 324,400/mm3; P < 0.05). The signs of toxicity observed were mainly vomiting and thrombocytopenia in two cases each, one case with headache and the other with neutropenia. Indications for use of hydroxyurea therapy in children with sickle cell disease in Brazzaville are common. These are dominated by recurrent anemic seizures, strokes, and hyperalgesic seizures. The excellent evolution of these complications under hydroxyurea represents an interesting alternative in our countries with limited resources.

The thoracic air-leak syndrome (TALS): the frequency of occurrence and radiological signs in the structure of late non-infectious lung lesions in children after the allogeneic HSСT

The thoracic air-leak syndrome (TALS) can be a presentation of late-onset noninfectious pulmonary complications in children with a chronic pulmonary graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation. We determined the frequency of occurrence of TALS in patients of the Center after HSСT in the period from January 2012 to December 2017. We have described the main X-ray signs of the Thoracic air-leak syndrome and manifestations of late onset noninfectious pulmonary complications in children. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. Parents patients agreed to use personal data in research and publications.

Pulmonary Ultrasound in the Diagnosis of Acute Thoracic Syndrome in Vaso-occlusive Sickle Cell Crisis

Pulmonary Ultrasound in the Diagnosis of Acute Thoracic Syndrome in Vaso-occlusive Sickle Cell Crisis

PB2306 SURGICAL PROCEDURES AND OUTCOMES AMONG CHILDREN WITH SICKLE CELL DISEASE

Background:Although children with sickle cell disease (SCD) often undergo surgery, there are limited current epidemiological data for this pediatric population. Sickle cell patients present a high risk of postoperative complications and have a higher morbidity and mortality than the general population after surgery. During the perioperative period there are certain situations that can trigger an increase in falciformation and vaso‐occlusive crises that lead to complications mainly of respiratory type. Our protocol of perioperative general care includes: transfusion of packed red blood cells to obtain a hemoglobin value of 10 g/dL, hyperhydration, avoiding hypoxia and cold, strict control of pain, early ambulation and incentivized spirometry.Aims:To study the prevalence and severity of postoperative complications in pediatric patients with SCD (HbSS/Sβ0 o SC) followed in our center in a period of 22 yearsMethods:We reviewed the medical records of patients with SCD who underwent surgery between January 1997 and January 2019. We described characteristics of patients, the type of surgery that was performed and the postoperative complications they presented.Results:From 1997 to 2019 out of 91 pediatric patients followed in our center with SCD, 38 patients underwent surgery (41.8%). A total of sixty‐one interventions were performed in these patients (1.6 surgeries per patient). The median age at the moment of surgery was 7.5 years. The most frequent procedure was otorhinolaryngological surgery (21.3%), followed by trauma surgery (18%), splenectomy (14.7%), herniorrhaphy (11.4%), cholecystectomy (8.2%), circumcision (6.6%) and others (19.6%). Postoperative complications were observed in 7 out of the 61 surgical interventions: 4 acute thoracic syndromes, 2 bronchospasm crises and 1 vaso‐occlusive crisis. In 4 of the 7 cases, complications occurred after abdominal surgeries. Most complications occurred within 24‐48 hours after the surgery (1 day median with a range of 0 to 6 days). In 4/7 of the perioperative complications patients were previously receiving hydroxyurea, 3/7 were not receiving hydroxyurea at the moment of the surgery; two because of medical indications and one patient arrived from country of origin where the medication was not administered. Three patients required admission to the intensive care unit (ICU). Two patients required exchange transfusion and respiratory support. There were no strokes and no deaths.Summary/Conclusion:We observed a high rate of surgical procedures in our patients. The burden of surgical disease in SCD children differs from the general pediatric population. In our series the most frequent indication for surgery was tonsillectomy and adenoidectomy. Despite the perioperative care described, we observed a prevalence of postsurgical complications of 11.5%. The majority of the complications were of respiratory type coinciding with the existing literature, practically half of them required admission to the ICU and a 28.5% underwent exchange transfusion and required respiratory support after the event. The incidence of death and stroke is nule in our series. There are few adequate trials to determine optimal perioperative management in these patients. Future research should determine how to predict and decrease perioperative complications.image

Short rib-thoracic dysplasia syndrome (typeIII) caused by compound heterozygous mutation in DYNC2H1: a case report

We reported one fetus who was identified with significantly short humeri and femora, bulging abdomen and narrowed chest at 22+2 weeks' gestation, which was consistent with clinical findings at birth. Genetic analysis revealed that this was a case of short-rib thoracic dysplasia syndrome (type Ⅲ) caused by compound heterozygous mutation in DYNC2H1. We summarized the features of prenatal ultrasound imaging and results of postpartum genetic analysis of this case to provide information for prenatal ultrasound diagnosis and postpartum consultation. Key words: Short Rib-Polydactyly Syndrome; Cytoplasmic dyneins; Mutation; Ultrasonography, prenatal

The role of video-assisted thoracoscopic surgery in the first rib resection for thoracic inlet syndrome

The role of video-assisted thoracoscopic surgery in the first rib resection for thoracic inlet syndrome