Background/Aim. Uterine carcinosarcoma (UCS), formerly known as malignant mixed M?llerian tumor, is a rare, aggressive malignancy of the female genital tract. The aim of this study was to analyze the ...most important clinical and pathohistological characteristics of UCSs on operated patients, as well as to determine which of those factors are affecting progression-free survival (PFS) and overall survival (OS) of patients. Methods. The study was conducted as a retrospective analysis of medical data documentation of patients with a diagnosis of UCS who were surgically treated at the Department of Gynecology, Clinic for Operative Oncology, Oncology Institute of Vojvodina, Sremska Kamenica, Serbia, in 10 years? period (from the beginning of 2009 to the end of 2018). The analysis included data for a total of 31 patients. Results. Of all the examined parameters (age of the patient, clinical stage of the disease, histological grade, depth of myometrial invasion, and lymphovascular invasion ? LVI), the greatest influence on the choice of therapeutic procedure had a histological tumor grade. Conclusion. Our research showed the joint influence of the examined clinical and pathohistological factors on PFS and OS of patients with UCS. The only independent parameter that showed a statistically significant impact on survival is LVI.
Background/Aim. Pulmonary exacerbations have negative impact on clinical course of cystic fibrosis (CF) lung disease being associated with a steeper decline in the lung function, unfavorable ...prognosis and impaired quality of life. The aim of this study was to determine whether an increased number of exacerbations had influence on the lung function in the patients with CF, as well as to estimate the nutritional status, gender, presence of comorbid conditions and bacterial colonization of airways as predictive factors for pulmonary exacerbations. Methods. This retrospective cohort study included 83 pediatric and adult patients, treated from 2011? 2015 in the Mother and Child Health Institute of Serbia ?Dr Vukan Cupic?. The best result of forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC) in each year of follow-up was taken into account to calculate the five-year trend values of these indicators. The number of exacerbations per year of follow-up and its impact on the FEV1 decline was evaluated. Results. Mean annual decline of FEV1 and FVC were 2.4% and 1.7% respectively. The malnourished patients had the lower initial values of FEV1 and FVC, and more frequent exacerbations in comparison with the normal weight and overweight patients. The frequency of exacerbations was significantly higher in the patients chronically colonized with Burkholderia cepacia (p = 0.023). The increased number of exacerbation was proved to be the most important factor in a prediction of FEV1 decline over time (p = 0.013). Conclusion. Pulmonary exacerbations lead to the more progressive lung function decline in the patients with CF. Malnourishment and chronic airway colonization with Burkholderia cepacia result in more frequent pulmonary exacerbations.
nema
Pulmonary renal syndrome (PRS), denoting the presence of diffuse alveolar hemorrhage and glomerulonephritis as manifestations of systemic autoimmune disease, is very rare in childhood. The ...coexistence of circulating anti-neutrophil cytoplasmic antibody (ANCA) and anti-glomerular basement membrane (GBM) disease in children affected by this syndrome is exceptional, with unfavorable outcome in five out of seven patients reported to date. We describe a child with PRS associated with both circulating anti-myeloperoxidase (anti-MPO) ANCA and anti-GBM disease on renal biopsy who was successfully treated with immunosuppressive therapy.
A 10-year old girl presented with fever, fatigue, malaise, and pallor followed by hemoptysis and severe anemia. Diffuse alveolar hemorrhage was revealed on fiberoptic bronchoscopy. Renal findings consisted of microscopic hematuria, moderate proteinuria, and anti-GBM disease on renal biopsy. ANCA with anti-MPO specificity were present whereas anti-GBM antibodies were on borderline for positivity. Methyl-prednisolone pulses followed by prednisone led to cessation of hemoptysis, marked improvement of lung fuction, and normal finding on chest x-ray within 10 days. An immunosuppressive regimen was then given consisting of prednisone daily for 4 weeks with subsequent taper on alternate day, i.v. cyclophosphamide pulses monthly for 6 doses, followed by mycophenolate mofetil that resulted in normal lung function tests, hemoglobin concentration, and anti-MPO level within four subsequent weeks. During 10-months of follow-up she remained well, her blood pressure and renal function tests were normal, and proteinuria and hematuria gradually resolved.
We report a child with an exceptionally rare coexistence of circulating ANCA and anti-GBM disease manifesting as PRS in whom renal disease was not the prominent part of clinical presentation, contrary to other reported pediatric patients. A review of literature on disease with double positive antibodies is also presented. Evaluation of a patient with PRS should include testing for presence of different antibodies. An early diagnosis and rapid institution of aggressive immunosuppressive therapy can induce remission and preserve renal function. Renal prognosis depends on the extent of kidney injury at diagnosis and appropriate treatment.
Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or ...pseudo-Bartter's syndrome. In most patients reported symptoms began in infancy, but it may be an initial presentation of disease in a previously healthy adolescent.
A 15-year-old boy was admitted for evaluation of recurrent episodes of malaise associated with dehydration and acute renal insufficiency. Laboratory analysis showed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. On admission the boy was obese, with body weight of 95.5 kg (> P97), height 174 cm (> P75), and body mass index of 31.2 kg/m2 (> P95). Physical examination was inconclusive. Blood pressure holter monitoring proved significant systolic hypertension. Routine urinalysis, protein and electrolyte levels in urine were normal. Plasma renin and aldosteron were normal. Sweat chloride concentration was 63 mmol/L. Genetic testing confirmed the diagnosis of cystic fibrosis.
To our knowledge, this is the first reported case of atypical presentation of cystic fibrosis in an adolescent presented with pseudo-Bartter's syndrome and signs of obesity and hypertension. We suggest that every patient with hypochloremic metabolic alkalosis should be evaluated for cystic fibrosis.
Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic ...rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.
Home mechanical ventilation (HMV) is a method of treatment in children with sleep-disordered breathing (SDB) and alveolar hypoventilation regardless of primary disease. The goal of the study was to ...describe the changes in the HMV program in Serbia during the last two decades. Cross-sectional retrospective study included data from the national HMV database from 2001 until 2019. HMV was initiated in clinically stable patients after the failure to wean from mechanical ventilation succeeded acute respiratory deterioration or electively after the confirmation of SDB and alveolar hypoventilation by sleep study or continuous transcutaneous capnometry and oximetry. The study included 105 patients (50 ventilated noninvasively and 55 ventilated invasively via tracheostomy). The median age at the time of HMV initiation was 6.2 years (range: 0.3-18 years). Invasive ventilation had been initiated significantly earlier than noninvasive ventilation (NIV) (
< 0.01), without difference in duration of ventilatory support (
= 0.95). Patients on NIV were significantly older (
< 0.01) than those ventilated invasively (13 and 1.5 years, respectively). Average waiting time on equipment had been shortened significantly-from 6.3 months until 2010 to 1 month at the end of the study (
< 0.01). Only 6.6% of patients had obstructive sleep apnea syndrome (OSAS) requiring HMV. During the study period, 24% patients died, mostly due to uncontrolled infection or progression of underlying disease. Availability and shortened waiting time for the equipment accompanied by advanced overall health care led to substantial improvements in the national HMV program. However, future improvements should be directed to systematic evaluation of SDB in patients with OSAS, early diagnosis of nocturnal hypoventilation, and subsequent timely initiation of chronic ventilation.
Laryngomalacia is the most frequent congenital anomaly of airways, and it may cause obstructive sleep apneas. The associated vocal cord paralysis may aggravate the symptoms of upper airway ...obstruction.
In a 14 month old boy severe laryngomalacia and bilateral vocal cord paralysis were diagnosed by flexible bronchoscopy. A sleep study showed a severe obstructive sleep apnoea (OSA). The patient was ventilated at home via the face mask with non invasive mechanical ventilation (CPAP) for a year. The level of pressure had to be set at 7 cm H2O to correct desaturation with an improvement in mean SpO2. On the follow up bronchoscopic examination laryngomalatia was improved, vocal cord paralysis persisted and sleep study revealed significant improvement.
In the patient with severe laryngomalatia and bilateral vocal cord paralysis with OSA conservative treatment with CPAP was used instead of a surgical intervention. Non invasive ventilation was used every night, for at least 6 hours, without adverse events. Invasive measurement of transdiaphragmatic pressure is the best way of titrating of CPAP level. This case report suggests the efficacy of noninvasive titrating of CPAP level by the hemoglobin oxygen saturation trend measurement.
In case of severe laryngomalatia and associated vocal cord paralysis, followed by OSA non invasive ventilation by nasal CPAP represents an effective and safe alternative to surgery.
Background: The results of many national surveys on pediatric home mechanical ventilation (HMV) in developed countries have been presented elsewhere, but data from developing countries with low ...national incomes are scarce.
Methods: Twenty‐nine pediatric patients, treated in the Mother and Child Institute of Serbia, who had been receiving long‐term ventilatory support at home, were surveyed. The major criterion for initiating HMV was hypercapnia, diagnosed by blood gas analysis, performed in the morning, after awakening. Other criteria were either symptoms of hypoventilation during the night associated with an apnea index of >5, or apnoea–hypopnoea index of >15, or nocturnal hypoxemia, defined as an oxygen saturation rate of <90% for >5% of total sleep time.
Results: The mean age at initiation of HMV was 9.3 years (range 0.5–17.8 years). Patients waited for HMV initiation either in hospital or at home; the mean period was 6.3 months (range 1–18 months). The subjects received HMV for a mean of 25.06 months (range 3–119 months). There was a significant difference in the duration of HMV for different underlying diseases (P= 0.046), and mechanical malfunction was strongly dependent on the duration of HMV (P= 0.011). Eleven patients underwent invasive HMV via a tracheostomy, and 18 others received non‐invasive ventilation, via nasal and full‐face masks.
Conclusion: HMV is feasible in developing countries. Valuable reimbursement policies as well as an organized and functional network are essential for its implementation, as a standard of care in leading national pediatric hospitals.
To examine the trajectory of forced expiratory volume in 1 s (FEV
) using data from the European Cystic Fibrosis Society patient registry (ECFPR) collected from 2008 to 2016,
the era before highly ...effective modulator therapy (HEMT). We evaluated risk factors for FEV
decline.
The study population included patients with a confirmed diagnosis of cystic fibrosis recorded in the ECFPR (2008-2016). The evolution of FEV
% predicted (%FEV
) with age, and the yearly change in %FEV
were evaluated. Risk factors considered were cystic fibrosis transmembrane conductance regulator (
) mutation class, gender, age at diagnosis, neonatal screening, meconium ileus, sweat chloride concentration at diagnosis and country's income level.
We used 199 604 FEV
recordings from 38 734 patients. The fastest decline was seen during puberty and in patients diagnosed before the age of 10 years. Males had a higher %FEV
, but a higher yearly %FEV
loss between the ages of 15 and 25 years. We showed stabilisation and even improvement in %FEV
over age in adults with a class III
mutation, but a steady decline in patients homozygous for F508del or with both mutations of classes I/II. A faster decline in %FEV
was found in patients from low-income countries compared to a similar %FEV
evolution in patients from middle- and high-income countries.
These longitudinal FEV
data reflect the reality of cystic fibrosis across Europe in the era pre-HEMT, and can serve as baseline for comparison with the post-HEMT era. The similar evolution in middle- and high-income countries underlines opportunities for low-income countries.
PDF
