This was a prospective cohort study of eighteen patients with large and debilitating vascular malformations with one or more major systemic complications. In all patients, we discovered activating alterations in either TEK or PIK3CA. Based on these findings, targeted treatment using the PI3K inhibitor alpelisib was started with regular check-ups, therapy duration varied from 6 to 31 months. In all patients, marked improvement in quality of life was observed. We observed radiological improvement in fourteen patients (two of them being on combination with either propranolol or sirolimus), stable disease in 2 patients. For 2 patients, an MRI scan was not available as they were shortly on treatment, however, a clinically visible response in size reduction or structure regression, together with pain relief was observed. In patients with elevated D-dimer levels before alpelisib administration, a major improvement was noted, suggesting its biomarker role. We observed overall very good tolerance of the treatment, documenting a single patient with grade 3 hyperglycemia. Patients with size reduction were offered local therapies wherever possible. Our report presents a promising approach for the treatment of VMs harboring different targetable TEK and PIK3CA gene mutations with a low toxicity profile and high efficacy.
PURPOSE OF THE STUDY Radial head fractures in paediatric patients account for 5-19% of all elbow injuries and approximately 1% of all fractures in children. Non-displaced fractures are treated with plaster cast fixation. If the fracture is displaced, we proceed to closed reduction, or to osteosynthesis in case of unstable fragments. If closed reduction fails, we opt for open reduction and osteosynthesis. The prospective randomised clinical study aims to compare the two methods of minimally invasive osteosynthesis using the pre-bent Kirschner wire or Prévot nail and to identify differences between them. MATERIAL AND METHODS The prospective randomised clinical study was conducted in 2015-2019. The final cohort included 32 patients who met the inclusion criteria. The patients in whom other osteosynthesis implants had been used or in whom open reduction had to be performed were excluded from the study. Also excluded were the patients with serious concomitant injuries of elbow. For patients included in the cohort, demographic data, precise evaluation of the displacement and location of the fracture as well as the duration of plaster cast fixation and osteosynthesis implants used were recorded. In the clinical part, the methods were compared based on the achievement of full range of motion in dependence on the degree of original displacement, use of osteosynthesis implant, and occurrence of early and delayed complications. Clinical and radiological outcomes were compared. In both types of minimally invasive osteosynthesis, Métaizeau surgical technique was used. RESULTS Based on the clinical trial criteria, 26 (81%) excellent, 4 (13%) good and 2 (6%) acceptable outcomes were achieved. In 3 cases the loss of rotation was up to 20°, in 1 case the loss of flexion was up to 10°. In one patient the loss of flexion was 15° and rotation up to 30°. In another patient the loss of rotation was up to 40°. The radiological assessment showed 14 (44%) excellent outcomes, 15 good (47%) and 3 (9%) acceptable outcomes. The statistical analysis of both the groups of the cohort using non-parametric tests revealed no statistically significant differences in individual demographic parameters. The comparisons of both types of osteosynthesis in dependence on the degree of displacement by non-parametric Fisher's exact test showed no statistically significant difference in the radiologic or clinical results. The only statistically significant difference was observed in the duration of metal implant placement. DISCUSSION Comparable studies report excellent or good clinical outcomes in 80-95% of cases (1,13,16). In our cohort, excellent or good clinical outcomes were achieved in 30 patients (94%). In two patients, in whom Prévot nail was used, the outcomes were acceptable. Nonetheless, this fact did not result in any statistical significance when comparing the two methods separately or in comparisons based on the degree of displacement. CONCLUSIONS The comparison of the two methods of minimally invasive osteosynthesis revealed no statistically significant difference, namely not even when both the methods were compared based on the degree of displacement. When Kirschner wire is used, the possibility to remove the metal implant in the outpatient setting is considered to be an advantage. The drawback consists in potential penetration of the sharp Kirschner wire in the radiocapitellar joint, which we did not encounter when the second technique of osteosynthesis was used. The advantage of Prévot nail includes a lower risk of pin-tract infection. Key words: minimally invasive osteosynthesis, radial head, fracture, child.
- MeSH
- dítě MeSH
- fraktury vřetenní kosti * diagnostické zobrazování etiologie chirurgie MeSH
- kostní dráty MeSH
- lidé MeSH
- prospektivní studie MeSH
- radius zranění MeSH
- vnitřní fixace fraktury * metody MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- randomizované kontrolované studie MeSH
PURPOSE OF THE STUDY Axial deformities of the lower limbs of various aetiologies are relatively common orthopaedic diagnoses in paediatric population. Fixed deformity is an indication for correction in order to reduce the pain and to delay the early osteoarthrosis of adjacent joints and pain. Temporary hemiepiphysiodesis is technically a fairly simple method for modulating growth at the level of the growth plate and thus correcting the skeletal axis. MATERIAL AND METHODS 59 patients who underwent axial deformity correction of lower limbs at KDCHOT FN Brno were retrospectively analysed. Group 1 consisted of 21 patients with Blount staples implantation, Group 2 consisted of 38 patients to whom eight-figure plates had been applied. Anthropometric parameters (BMI, age, gender, intermalleolar distance (IMD)), duration of therapy, X-ray parameters (anatomical lateral distal femoral angle (aLDFA), anatomical medial proximal tibial angle (aMPTA)) and complications were recorded. The rate of correction was evaluated as the difference in X-ray parameters before and after surgery with respect to the time interval of the therapy. RESULTS The groups were comparable in terms of anthropometric parameters (BMI (p=0.800), IMD (p=0.334), gender (p=0.87)). The only statistically significant difference was found when comparing the mean age of the groups (p=0.005), with Group 1 (12.7±0.7) containing patients with a higher mean age than Group 2 (11.6±1.5). The groups were also comparable in terms of the average rate of correction over a one-month interval (aLDFA p=0.393; aMPTA p=0.831). The mean correction rate for Group 1 was: aLDFA 0.52±0.20/month, aMPTA 0.12±0.08/month; for Group 2: aLDFA 0.56±0.28/month, aMPTA 0.12±0.20/month. Individual implants differed in the type of complications, but no significant statistical difference in the incidence of complications was found between the analysed groups (p=0.526). DISCUSSION Recently, the system of eight-figure plates has been adopted as a standard method for correction of axial deformities of limbs. Although the benefits of this system are indisputable, when comparing the average monthly correction rate, no significant difference was found between the system of eight-figure plates and Blount staples in our study. Another monitored parameter was the occurrence of complications, which was evaluated fairly strictly. Even in this case, no statistically significant difference was found. We believe that the issue of using eight-figure plates is still open, as evidenced by studies, which often produce different results and conclusions. Therefore, a precise evaluation of the indication for correction, including individual characteristics of patients, is needed. CONCLUSIONS Based on the results, it can be concluded that the use of eight-figure plates in comparison with Blount staples provides neither faster correction of axial deformities nor lesser occurrence of complications. It can therefore be argued that the Blount staples still have their place in the indication of correction of axial deformities. The use of eight-figure plates represents a suitable solution for children of younger age to whom anchoring of the screws of eight-figure plates is a suitable solution in the cartilaginous epiphysis of long bones of younger children. Key words: temporary hemiepiphysiodesis, growth plate, Blount staples, eight-figure plates.
This work presents a case series of four children diagnosed with severe cerebrovascular disease in association with recent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, yet no patient from the group met typical diagnostic criteria for multisystem inflammatory syndrome in children. Our aim was to highlight the possible vascular involvement and coagulopathies associated with SARS-CoV-2 infection in the pediatric population. Further data are needed to better understand the pathophysiological basis of this condition in children and to ensure its optimal management.
- MeSH
- COVID-19 * komplikace MeSH
- dítě MeSH
- lidé MeSH
- SARS-CoV-2 MeSH
- syndrom systémové zánětlivé reakce MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- diagnostické zobrazování metody MeSH
- kojenec MeSH
- lebka diagnostické zobrazování MeSH
- lidé MeSH
- mozek diagnostické zobrazování patologie MeSH
- novorozenec MeSH
- ultrasonografie * klasifikace metody MeSH
- ultrazvukové vlny MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- přehledy MeSH
Úvod: V uplynulém období byl ve Fakultní nemocnici Brno zaznamenán nárůst komplikovaných pneumonií, které došly až do stadia nekrotizující pneumonie. Cílem této práce je retrospektivní analýza pacientů se získaným zánětlivým onemocněním plic vyžadujícím chirurgickou léčbu v dlouhodobě sledovaném souboru jednoho centra. Metody: Retrospektivní analýza pacientů hospitalizovaných pro komunitní pneumonii s důrazem na pacienty, kteří museli být chirurgicky léčeni v jednotlivých letech 2015–2019. Sledován byl podíl nutných hrudních drenáží, dekortikací a plicních resekcí ve vztahu k celému souboru a jednotlivým kalendářním letům. Po jednom roce od hospitalizace bylo provedeno klinické a RTG vyšetření a byla stanovena prognóza pro jednotlivé typy nutné léčby. Sledovány byly také věk, pohlaví a etiologické agens. Výsledky: Do studie bylo zařazeno celkem 688 pacientů se stoupající incidencí do roku 2018 a s mírným poklesem v roce 2019. Statisticky významně vyšší počet komunitních pneumonií a komplikací byl zaznamenán ve srovnání let 2017 a 2018. Z celkového počtu pacientů vyžadovalo 46 z nich (6,7 %) chirurgickou léčbu, která byla vždy zahájena hrudní drenáží. Celkem u 17 pacientů bylo nutné později provést dekortikaci a u 7 pacientů bylo nakonec nutné provést resekční výkon. U jediné pacientky byly patrné i po jednom roce změny na RTG s adekvátním oslabením poslechového nálezu, avšak bez klinického korelátu a subjektivního vjemu. Závěr: Počet pacientů s diagnózou bronchopneumonie a nutností hospitalizace meziročně narůstá. Provedená dekortikace nebo resekční výkon vedly vždy k rychlému zlepšení zdravotního stavu a v dlouhodobém sledování nezanechaly klinické ani subjektivní obtíže. V léčbě nekrotizující pneumonie má chirurgická léčba nezastupitelnou roli.
Introduction: An increased incidence rate of cases of complicated pneumonia, reaching up to the stage of necrotizing pneumonia was observed at University Hospital Brno in the past period. The aim of this study was to perform a single-center retrospective analysis of patients with acquired inflammatory lung disease requiring surgical treatment, comprising a long-term follow-up group. Methods: Patients hospitalized for community-acquired pneumonia and surgically treated in the years 2015–2019 were analyzed. The rates of necessary chest drainages, decortications and lung resections in relation to the whole group and individual years were monitored. Clinical and X-ray examinations were performed one year after hospitalization and the prognosis was determined for individual types of required treatments. The age, gender and etiological agents were also monitored. Results: A total of 688 patients were included in the study with the incidence rising until 2018 and decreasing slightly in 2019. A statistically significantly higher number of community-acquired pneumonias and complications was recorded between 2017 and 2018 (p<0.05). Of the total number of patients, 46 (6.7%) required surgical treatment, which was started with chest drainage in all cases. A total of 17 patients required later decortication and finally, 7 patients required lung resection. X-ray changes were seen only in one patient with adequately reduced breath sounds on auscultation, although without a clinical correlate or subjective impression, after one year of follow-up. Conclusion: The number of patients with complicated bronchopneumonia who require hospitalization has been growing during the last years. Decortication or lung resection resulted in a rapid improvement of the condition in all cases and did not leave any clinical or subjective difficulties in the long-term follow-up. Surgical treatment has an irreplaceable role in the treatment of necrotizing pneumonia.
a
a
- Klíčová slova
- burosumab,
- MeSH
- familiární hypofosfatemická rachitida * diagnóza farmakoterapie MeSH
- humanizované monoklonální protilátky aplikace a dávkování terapeutické užití MeSH
- hypofosfatemie farmakoterapie krev MeSH
- lidé MeSH
- poruchy růstu diagnóza farmakoterapie MeSH
- rentgendiagnostika MeSH
- růst a vývoj účinky léků MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- Publikační typ
- abstrakt z konference MeSH
Prezentujeme případ kojence s variantou septooptické dysplazie (forma holoprosencefalie) s náhodně zjištěnou závažnou hypernatremií. Kazuistické sdělení poukazuje na možnost koincidence hypopituitarismu u pacientů s touto formou malformace předního mozku. Důsledkem kombinovaného primárního endokrinního deficitu u novorozenců a kojenců mohou být různé poruchy vnitřního prostředí. Závažná hypernatremie v důsledku centrálního diabetu insipidu patří mezi potenciálně fatální komplikace vyžadující velmi pozvolnou, přísně kontrolovanou korekci parametrů vnitřního prostředí. Jedině tak je možné předejít závažným neurologickým komplikacím v důsledku rychle se měnícího vnitřního prostředí.
We present acase report of an infant with septooptic dysplasia variant (holoprosencephaly spectrum) with accidentally found severe hypernatremia. The case report points to the possibility of coincidence of hypopituitarism in patients with this form of forebrain malformation. Combined primary endocrine deficits in neonates and infants may result in derangement of body internal environment. Severe hypernatremia due to central diabetes insipidus is one of the potentially fatal complications requiring avery gradual, strictly controlled correction of the internal environment parameters. This is the only way to prevent serious neurological complications due to the rapidly changing internal environment.
- MeSH
- desmopresin aplikace a dávkování terapeutické užití MeSH
- diabetes insipidus etiologie terapie MeSH
- holoprosencefalie diagnostické zobrazování MeSH
- hypernatremie * etiologie terapie MeSH
- kojenec MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- výsledek terapie MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
Respiratory distress syndrome caused by a secondary surfactant deficiency is one of the most common diagnoses requiring admission to the Neonatal Intensive Care Unit. We illustrate the case of a term female newborn without prenatal and peripartal risks. There had been significant signs of respiratory distress 4 h after delivery. The condition gradually worsened to the point of needing oscillatory ventilation. The most common infectious and non-infectious causes were excluded. Considering the course of illness, a congenital surfactant deficiency was suspected. There nevertheless was no significant improvement after administration of surfactant. Following a short period of palliative care, the child died at 34 days of age due to respiratory failure. DNA diagnostics revealed compound heterozygosity of ABCA3 functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation of ABCA3 c.737C>T had not to date been described in connection with primary surfactant deficiency.
- Publikační typ
- kazuistiky MeSH
