Project description:BackgroundThe most common neonatal tumor is neuroblastoma and adrenal gland is the most common site of involvement. 11-26% of this tumor is seen in the thorax of neonates. Due to a similar appearance of the mediastinal tumor with pneumonia, a high index of suspicion is necessary for early diagnosis of this disorder.Case reportA 17-day -old female and term neonate delivered by caesarian section was reported in the study. The mother had a normal pregnancy without any reported complications. The newborn admitted to a neonatal intensive care unit (NICU) in her hometown, because of respiratory distress, stridor, and tachypnea which was started from 7 days of life and due to lack of recovery and persistent respiratory symptoms, the patient referred to our hospital. In chest X-ray, opacity in the right upper lobe of the lung was seen. In barium study, a mass like lesion in the size of 35.34?mm adjacent to upper intra-thoracic esophagus with mild mass effect was observed and in CTS a posterior mediastinal mass with severe compression on the trachea and extension to the spinal canal was reported. Due to severe obstruction on the airway, the baby underwent emergency surgery and a mediastinal mass with adhesion and involvement of the ribs and spinal cord was resected. The final diagnosis of poorly differentiated neuroblastoma was confirmed by biopsy.ConclusionIn every neonate with persistent respiratory distress, stridor and abnormal chest X-ray, diagnosis of neonatal neuroblastoma should be considered.
Project description:BackgroundExtracorporeal membrane oxygenation (ECMO) has been proven to support in lifesaving rescue therapy. The best outcomes can be achieved in high-volume ECMO centers with dedicated emergency transport teams.AimThe aim of this study was to analyze the safety of ECMO support during medical transfer on the basis of our experience developed on innovation cooperation and review of literature.MethodsA retrospective analysis of our experience of all ECMO-supported patients transferred from regional hospital of the referential ECMO center between 2015 and 2020 was carried out. Special attention was paid to transportation-related mortality and morbidity. Moreover, a systematic review of the Medline, Embase, Cochrane, and Google Scholar databases was performed. It included the original papers published before the end of 2019.ResultsTwelve (5 women and 7 men) critically ill ECMO-supported patients with the median age of 33 years (2-63 years) were transferred to our ECMO center. In 92% (n = 11) of the cases venovenous and in 1 case, venoarterial supports were applied. The median transfer length was 45 km (5-200). There was no mortality during transfer and no serious adverse events occurred. Of note, the first ECMO-supported transfer had been proceeded by high-fidelity simulations. For our systematic review, 68 articles were found and 22 of them satisfied the search criteria. A total number of 2647 transfers were reported, mainly primary (90%) and as ground transportations (91.6%). A rate of adverse events ranged from 1% through 20% but notably only major complications were mentioned. The 4 deaths occurred during transport (mortality 0.15%).ConclusionsOur experiences and literature review showed that transportation for ECMO patients done by experienced staff was associated with low mortality rate but life-threatening adverse events might occur. Translational simulation is an excellent probing technique to improve transportation safety.
Project description:Acute respiratory distress syndrome has not been a described complication of hypothermia. Causes of hypothermia are commonly associated with alcohol abuse and infection, both of which could lead to acute respiratory distress syndrome. We present a case of severe hypothermia complicated by acute respiratory distress syndrome in a young immunocompetent male treated successfully with mechanical intubation and venovenous extracorpeal membrane oxygenation. Risk factors for known causes of acute respiratory distress syndrome included a witnessed aspiration event and RSV pneumonia. On review of the literature, severe hypothermia has been found to cause pulmonary edema in post-mortem studies, but acute respiratory distress syndrome has not yet been recognized as a known complication. Our case highlights that acute respiratory distress syndrome may be multifactorial in etiology and related to complications of severe hypothermia.
Project description:Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.
Project description:BackgroundCoronavirus disease (COVID-19) is a growing concern worldwide. Approximately 5% of COVID-19 cases require intensive care. However, the optimal treatment for respiratory failure in COVID-19 patients is yet to be determined.Case presentationA 79-year-old man with severe acute respiratory distress syndrome due to COVID-19 was admitted to our intensive care unit. Prone ventilation was effective in treating the patient's hypoxemia. Furthermore, the patient received lung protective ventilation with a tidal volume of 6-8 mg/kg (predicted body weight). However, the patient's respiratory failure did not improve and he died 16 days after admission because of multiple organ failure. Serial chest computed tomography revealed a change from ground-glass opacity to consolidation pattern in both lungs.ConclusionsWe report a protracted case of COVID-19 in a critically ill patient in Japan. Although prone ventilation could contribute to treating hypoxemia, its efficacy in preventing mortality from COVID-19 is unknown.
Project description:Objectives This study aims to describe the characteristics of patients diagnosed with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome at a single center in China and provide an up-to-date literature review. Methods The clinical data and genotype of three Chinese Han patients were carefully documented and studied. We also conducted a systematic literature review on PAPA syndrome. Results A total of three patients were diagnosed with PAPA syndrome at our center from 2018 to 2020. Arthritis was observed in all three patients, while pyoderma gangrenosum (PG) was found in two patients and acne in one patient. Other manifestations included pathergy reaction, intermittent fever, oral ulcer, keratitis, proteinuria, and hematuria. The PSTPIP1 A230T mutation was identified in two patients, and a novel Y119C variation was revealed in a sporadic patient. A total of 76 patients with PAPA syndrome reported in 29 articles were included in our literature review. The classical triad of arthritis, PG, and acne was visible in only 16 (25.4%) patients, while 24 (38.1%) exhibited only one major symptom. Skin lesions were more commonly seen in patients with adult-onset disease than those with childhood-onset disease (100 vs. 83%), whereas arthritis was less common (50 vs. 98.1%). Steroid and/or biological agents were effective in most patients. Conclusions The rarity and phenotypic heterogeneity associated with PAPA syndrome make the diagnosis a huge challenge to physicians, especially in adult patients. A significant portion of patients did not exhibit the full spectrum of the classical triad. Accordingly, gene testing is critically helpful for diagnosis.
Project description:OBJECTIVE:To report the stabilization of urinary glycosaminoglicans (GAG) excretion and clinical improvements in patients with mucopolysaccharidosis type I (MPS I) under an alternative dose regimen of laronidase of 1.2 mg/kg every other week. METHODS:We participated in a dose-optimization trial for laronidase in MPS-I patients using four alternative regimens: 0.58 mg/kg every week, 1.2 mg/kg every two weeks, 1.2 mg/kg every week and 1.8 mg/kg every other week (EOW). After the trial ended, the patients resumed the recommended dose and regimen of 0.58 mg/kg every week. Under this regimen, some patients presented difficulties in venous access and were unable to commute weekly to the treatment center. Therefore, we used an alternative regimen that consisted of 1.2 mg/kg EOW in eight patients. A retrospective study of medical records of MPS-I patients who underwent both enzyme replacement therapy (ERT) regimens, of 0.58 mg/kg every week and 1.2 mg/kg EOW, was done. RESULTS:Patients remained clinically stable under the alternative regimen, did not present elevation of urinary GAG nor any adverse event.Conclusions: The switch of dose regimen to 1.2 mg/kg EOW of laronidase was safe, and did not cause any clinical worsening in patients who had been previously under standard dose ERT.
Project description:OBJECTIVE:To report the case of a child who developed acute respiratory distress syndrome (ARDS) from a pulmonary infection by adenovirus. CASE DESCRIPTION:A female patient aged 2 years and 6 months, weighting 10,295 grams developed fever, productive cough and vomiting, later on progressing to ARDS despite initial therapy in accordance with the institutional protocol for ARDS treatment. The child evolved to refractory hypoxemia and hypercapnia, requiring high parameters of mechanical pulmonary ventilation and use of vasoactive agents. In the treatment escalation, the patient received steroids, inhaled nitric oxide (iNO), was submitted to the prone position, started oscillatory high-frequency ventilation (HFOV) and extracorporeal membrane oxygenation (ECMO) was indicated due to severe refractory hypoxemia. During this time, the patient's clinical response was favorable to HFOV, improving oxygenation index and hypercapnia, allowing the reduction of vasoactive medications and mechanical ventilation parameters, and then the indication of ECMO was suspended. The patient was discharged after 26 days of hospital stay without respiratory or neurological sequelae. COMMENTS:Adenovirus infections occur mainly in infants and children under 5 years of age and represent 2 to 5% of respiratory diseases among pediatric patients. Although most children with adenovirus develop a mild upper respiratory tract disease, more severe cases can occur. ARDS is a serious pulmonary inflammatory process with alveolar damage and hypoxemic respiratory failure; Adenovirus pneumonia in children may manifest as severe pulmonary morbidity and respiratory failure that may require prolonged mechanical ventilation. Exclusive pulmonary recruitment and HFOV are advantageous therapeutic options.