PURPOSE OF THE STUDY: Intraarticular fractures of the distal femur rank among the most severe musculoskeletal injuries. Various treatment options, such as plate osteosynthesis or retrograde nailing, can be employed. This study aims to evaluate the clinical outcomes and complications of intraarticular distal femoral fractures treated with retrograde femoral nail, with particular emphasis on C3 fractures. MATERIAL AND METHODS: Between January 2016 and January 2023, 18 AO/33.C3 fractures were treated with a retrograde femoral nail. Of these, two were classified as 33.C1, eight as 33.C2 and eight as 33.C3. Twelve of the fractures were open. After the initial treatment and stabilizing the patient's overall condition, we proceeded with the definitive osteosynthesis. The first phase involved open reduction and fixation using individual screws to reconstruct the articular surface. The second phase consisted in retrograde nailing with correction of the length, axis and rotation of the femur. The evaluation criteria included: complication rate, number of revisions, knee range of motion, mechanical axis and length of the lower extremity, progression of gonarthrosis, pain level, need of walking support, Lysholm and Tegner Activity Score for functional outcome. RESULTS: Overall, we evaluated the complications and the outcomes of 12 patients (13 fractures). Of these, 8 patients experienced some kind of postoperative complications, primarily insufficient healing or nonunion, which were managed through revision surgery. Plate reosteosynthesis was used in 2 patients who were then excluded from the final clinical evaluation. No cases of deep infection or deep vein thrombosis were reported and no patient required total knee replacement. Seven AO/33.C3 fractures were individually evaluated. The average knee range of motion was nearly 0-93°, maximum flexion was 120°. On average, the lower extremity was 1.6 cm shorter and 7.3° varus to the mechanical axis. Only little progression of gonarthrosis was observed along with low levels of pain. The Lysholm Score ranged between 52 and 84 points (averaging 73.1). The mean Tegner Activity Score was 3.4. All results showed adequate improvement in 33.C2 and 33.C1 groups. DISCUSSION: The retrograde femoral nail demonstrates several advantages over the locking compression plate, particularly in biomechanical aspects. Various clinical studies have reported superior outcomes in terms of healing, complication rate, blood loss and functional outcome. Our study findings align with some of those international studies, particularly in the rate of infectious complications (0%), mean Lysholm Score (79.3 p.) and Tegner Activity Score (4.1). On the other hand, we observed a higher rate of revision surgery (53.8 %), mainly due to evaluating 33.C fractures only. The main advantage of this method lies in complete visualization, leading to better reconstruction of the articular surface coupled with excellent biomechanical properties of the intramedullary nail. CONCLUSIONS: Intraarticular distal femoral fractures pose significant challenges to treatment and frequently lead to permanent damage. The primary treatment goals involve achieving anatomical reposition of the articular surface, stable osteosynthesis, correction of the femoral length and axis and early rehabilitation. Our study demonstrates good clinical outcomes with a relatively low rate of complications. Patients are capable of walking without pain, achieving a good range of motion, returning to their occupations and becoming self-sufficient. Moreover, there were no infectious complications and no significant progression of gonarthrosis. KEY WORDS: retrograde femoral nail, intraarticular distal femoral fracture, functional outcome, complication rate.

• MeSH
• fraktury femuru * chirurgie   MeSH
• intraartikulární fraktury chirurgie   MeSH
• intramedulární fixace fraktury metody   přístrojové vybavení   MeSH
• kostní hřeby * MeSH
• lidé středního věku MeSH
• lidé MeSH
• pooperační komplikace etiologie   MeSH
• reoperace metody   MeSH
• rozsah kloubních pohybů MeSH
• vnitřní fixace fraktury metody   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

OBJECTIVES: To examine the relationship of clinical, biochemical and imaging parameters to maximum oxygen uptake in patients after atrial correction of transposition of great arteries. BACKGROUND: Exercise tolerance is a key determinant of quality of life in patients with adult congenital heart disease. It is determined by a large scale of factors often different from general cardiology. METHODS: 86 consecutive patients after Senning correction of TGA were subjected to clinical and echocardiographic examination, Holter monitoring, blood tests of NT-proBNP, MRI of the heart and exercise test. Parameters of these examinations were correlated to VO2 max. RESULTS: The average age of patients was 28±3.5 years. The average systemic right ventricular function determined by MRI was 51.9±7.9 %. The average NT-proBPN was 124.3±23.6 ng/l, VO2 max. 31.7±6.5 ml/kg/min and the heart rate reserve 106±24 /min. Neither systemic right ventricular systolic function nor NT-proBPN predicted VO2 max., whereas the heart rate reserve did (p=0.003). CONCLUSION: An inability to increase heart rate during exercise noted in a considerable number of patients after atrial switch of TGA caused a decreased exercise tolerance. It is not solely the global systolic function of either ventricle that influences the exercise performance, rather it is the ability to increase heart rate and overall cardiac output appropriately (Tab. 3, Fig. 6, Ref. 28).

• MeSH
• dospělí MeSH
• echokardiografie metody   přístrojové vybavení   MeSH
• funkce pravé komory srdeční MeSH
• korekce transpozice velkých arterií * MeSH
• kyslík MeSH
• lidé MeSH
• magnetická rezonanční tomografie metody   přístrojové vybavení   MeSH
• srdeční frekvence MeSH
• tolerance zátěže * MeSH
• transpozice velkých cév chirurgie   MeSH
• zátěžový test MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• klinická studie MeSH
• práce podpořená grantem MeSH

Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene-by-gene diagnostics. We present Czech NMD patients with a genetic cause identified using targeted next-generation sequencing (NGS) and the spectrum of these causes. Overall 167 unrelated patients presenting NMD falling into categories of muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, and other myopathies were tested by targeted NGS of 42 known NMD-related genes. Pathogenic or probably pathogenic sequence changes were identified in 79 patients (47.3%). In total, 37 novel and 51 known disease-causing variants were detected in 23 genes. In addition, variants of uncertain significance were suspected in 7 cases (4.2%), and in 81 cases (48.5%) sequence changes associated with NMD were not found. Our results strongly indicate that for molecular diagnostics of heterogeneous disorders such as NMDs, targeted panel testing has a high-clinical yield and should therefore be the preferred first-tier approach. Further, we show that in the genetic diagnostic practice of NMDs, it is necessary to take into account different types of inheritance including the occurrence of an autosomal recessive disorder in two generations of one family.

• MeSH
• dospělí MeSH
• genetické testování * MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• nemoci svalů epidemiologie   genetika   patofyziologie   MeSH
• sekvenční analýza DNA * MeSH
• svalové dystrofie epidemiologie   genetika   patofyziologie   MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy. Cognitive functions were normal in 10 patients. Four, six and 24 patients had mild, moderate, and severe developmental delay, respectively, typically subsequent to developmental regression (59%). Residual enzyme activity showed no predictive value, and estimation of glycosaminoglycans (GAGs) had only limited importance for prognosis. Mutation analysis performed in 36 families led to the identification of 12 novel mutations, eight of which were small deletions/insertions. Large deletions/rearrangements and all but one small deletion/insertion led to a severe phenotype. This genotype-phenotype correlation was also identified in six cases with recurrent missense mutations. Based on patient genotype, the severity of the disease may be predicted with high probability in approximately half of MPS II patients.

• MeSH
• dítě MeSH
• dospělí MeSH
• genetické asociační studie MeSH
• glykoproteiny genetika   MeSH
• glykosaminoglykany moč   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mukopolysacharidóza II etiologie   genetika   MeSH
• mutace * MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Chorvatsko MeSH
• Slovenská republika MeSH
• Srbsko MeSH

• Publikační typ
• abstrakt z konference MeSH

BACKGROUND: Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes syndrome (MELAS) is a common mitochondrial disorder with varying multisystemic clinical manifestation. We present a comprehensive clinical picture of 50 Czech m.3243A>G carriers with emphasis on the sequence of symptoms in symptomatic patients. RESULTS: Symptoms developed in 33 patients (66%) and 17 carriers remained unaffected (34%). The age of onset varied from 1month to 47years of age, with juvenile presentation occurring in 53% of patients. Myopathy was the most common presenting symptom (18%), followed by CPEO/ptosis and hearing loss, with the latter also being the most common second symptom. Stroke-like episodes (SLE) occurred in fourteen patients, although never as a first symptom, and were frequently preceded by migraines (58%). Rhabdomyolysis developed in two patients. The second symptom appeared 5.0±8.3years (range 0-28years) after the first, and the interval between the second and third symptom was 2.0±6.0years (range 0-21years). Four of our patients remained monosymptomatic up to 12years of follow-up. The sequence of symptoms according to their time of manifestation was migraines, myopathy, seizures, CPEO/ptosis, SLE, hearing loss, and diabetes mellitus. The average age at death was 32.4±17.7years (range 9-60years) in the juvenile form and 44.0±12.7years (range 35-53years) in the adult form. Some patients with SLE harboured very low heteroplasmy levels in various tissues. No threshold for any organ dysfunction could be determined based on these levels. CONCLUSIONS: Sufficient knowledge of the timeline of the natural course of MELAS syndrome may improve the prediction and management of symptoms in patients with this mitochondrial disease.

• MeSH
• dítě MeSH
• dospělí MeSH
• fenotyp MeSH
• heterozygot MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mitochondriální DNA genetika   MeSH
• mitochondriální myopatie genetika   mortalita   patofyziologie   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• předškolní dítě MeSH
• RNA transferová Leu genetika   MeSH
• syndrom MELAS genetika   mortalita   patofyziologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

Úvod: Huntingtonova nemoc (Huntington's Disease; HD) je neléčitelné neurodegenerativní onemocnění, které se manifestuje v dospělosti progresivními změnami chování, motoriky a kognitivních funkcí. Onemocnění je způsobeno expanzí tripletu CAG v genu pro protein huntingtin a má téměř úplnou penetranci. Nejvíce postižené bývá striatum, avšak patologické změny jsou detekovatelné také v periferních tkáních jako je krev, sval nebo kožní fibroblasty. V posledních letech se ukazuje, že důležitou roli v patogenezi a progresi HD hraje poškození mitochondrií, jako jsou např. změny aktivit komplexů dýchacího řetězce, snížení syntézy ATP nebo zvýšení apoptotických signálů. Cíl a materiál: Cílem studie bylo analyzovat množství komplexu I a IV dýchacího řetězce v epiteliálních buňkách bukálního stěru u šesti pacientů s HD a u tří miniprasat transgenních pro N‑terminální část lidského mutovaného huntingtinu (TgHD) ve srovnání se zdravými kontrolami. Metody: Množství komplexu I a IV dýchacího řetězce bylo stanoveno pomocí mikroimunoanalýzy (Dipstick microimmunocapture assay, Mitosciences). Výsledky: U čtyř pacientů ze šesti bylo detekováno snížené množství komplexu I a/nebo IV až na 36 % hodnoty u kontrol. Mikroimunoanalýza se ukázala dostatečně citlivá i pro detekci komplexů I a IV v buňkách bukální sliznice TgHD miniprasat, avšak ve věku 36 měsíců nebyl zaznamenán rozdíl v obsahu komplexů I a IV mezi TgHD a WT zvířaty. Vzorky z bukálního stěru mohou být odebírány opakovaně bez větší zátěže pacienta nebo sledovaného zvířete. Analýza epiteliálních buněk ústní sliznice tak může sloužit k dlouhodobému monitorování mitochondrií od asymptomatického období až po úplný rozvoj HD. Klíčová slova: Huntingtonova nemoc – komplex I dýchacího řetězce – komplex IV dýchacího řetězce – epiteliální buňky bukálního stěru Autoři deklarují, že v souvislosti s předmětem studie nemají žádné komerční zájmy. Redakční rada potvrzuje, že rukopis práce splnil ICMJE kritéria pro publikace zasílané do biomedicínských časopisů.

Introduction: Huntington's disease (HD) is an incurable neurodegenerative disorder that manifests progressive behavioral and motoric changes and cognitive dysfunction. It is caused by CAG expansion in huntingtin gene and has almost full penetrance. The striatum is the most affected tissue in HD, but pathological changes are also detected in the peripheral tissues like blood, skeletal muscle or fibroblasts. Intensive HD research in the last years has revealed an important role of mitochondrial dysfunction in the pathogenesis and progression of the disease, which includes changes in the activity of the respiratory chain complexes, ATP synthesis or increased apoptotic stimuli. Aim and material: We decided to analyse the amount of mitochondrial respiratory chain complex I and IV in the epithelial cells of buccal smear in six HD patients and from an animal disease model, minipigs transgenic for the N‑terminal part of human mutated huntingtin (TgHD). Methods: The amount of mitochondrial complexes I and IV was determined by dipstick microimmunocapture assay (Mitosciences). Results: A decreased level of CI and/or CIV in HD patients (4/6), up to 36% of the control values, was detected. The analysis performed on the minipig samples showed strong signals, but no uniform trend was observed within the WT and TgHD groups at the age of 36 months. Conclusions: The advantage of this approach is that samples of buccal cells can be collected repeatedly without the stress for the studied objects and therefore can serve for longitudinal monitoring of mitochondria during the asymptomatic stage until full development of the disease.

• Klíčová slova
• komplex I dýchacího řetězce, komplex IV dýchacího řetězce, epiteliální buňky bukálního stěru, dipstick immunocapture assay, mikroimunoanalýza,
• MeSH
• biologické markery analýza   MeSH
• dospělí MeSH
• epitelové buňky MeSH
• geneticky modifikovaná zvířata MeSH
• Huntingtonova nemoc * diagnóza   patologie   MeSH
• imunosorpční techniky MeSH
• lidé středního věku MeSH
• lidé MeSH
• miniaturní prasata MeSH
• mitochondrie * MeSH
• modely u zvířat MeSH
• pilotní projekty MeSH
• prasata MeSH
• proteiny nervové tkáně genetika   metabolismus   MeSH
• respirační komplex I analýza   MeSH
• respirační komplex IV analýza   MeSH
• senioři MeSH
• studie případů a kontrol MeSH
• ústní sliznice MeSH
• věk při počátku nemoci MeSH
• zvířata MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• práce podpořená grantem MeSH
• srovnávací studie MeSH

Mitochondrial morphology was studied in cultivated myoblasts obtained from patients with mitochondrial disorders, including CPEO, MELAS and TMEM70 deficiency. Mitochondrial networks and ultrastructure were visualized by fluorescence microscopy and transmission electron microscopy, respectively. A heterogeneous picture of abnormally sized and shaped mitochondria with fragmentation, shortening, and aberrant cristae, lower density of mitochondria and an increased number of "megamitochondria" were found in patient myoblasts. Morphometric Fiji analyses revealed different mitochondrial network properties in myoblasts from patients and controls. The small number of cultivated myoblasts required for semiautomatic morphometric image analysis makes this tool useful for estimating mitochondrial disturbances in patients with mitochondrial disorders.

• MeSH
• dítě MeSH
• fluorescenční mikroskopie MeSH
• kojenec MeSH
• lidé MeSH
• mitochondriální nemoci patologie   MeSH
• mitochondrie ultrastruktura   MeSH
• myoblasty ultrastruktura   MeSH
• transmisní elektronová mikroskopie MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• Publikační typ
• abstrakt z konference MeSH

The role of metals in urinary stone formation has already been studied in several publications. Moreover, urinary calculi can also be used for assessing exposure of humans to minor and trace elements in addition to other biological matrices, for example, blood, urine, or hair. However, using urinary calculi for biomonitoring of trace elements is limited by the association of elements with certain types of minerals. In this work, 614 samples of urinary calculi were subjected to mineralogical and elemental analysis. Inductively coupled plasma mass spectrometry and thermo-oxidation cold vapor atomic absorption spectrometry were used for the determination of major, minor, and trace elements. Infrared spectroscopy was used for mineralogical analysis, and additionally, it was also employed in the calculation of mineralogical composition, based on quantification of major elements and stoichiometry. Results demonstrate the applicability of such an approach in investigating associations of minor and trace elements with mineralogical constituents of stones, especially in low concentrations, where traditional methods of mineralogical analysis are not capable of quantifying mineral content reliably. The main result of this study is the confirmation of association of several elements with struvite (K, Rb) and with calcium phosphate minerals, here calculated as hydroxylapatite (Na, Zn, Sr, Ba, Pb). Phosphates were proved as the most important metal-bearing minerals in urinary calculi. Moreover, a significantly different content was also observed for Fe, Zr, Mo, Cu, Cd, Se, Sn, and Hg in investigated groups of minerals. Examination of such associations is essential, and critical analysis of mineral constituents should precede any comparison of element content among various groups of samples.

• MeSH
• fosfáty analýza   MeSH
• hmotnostní spektrometrie MeSH
• kyselina močová analýza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• minerály analýza   MeSH
• močové kameny chemie   MeSH
• oxaláty analýza   MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• spektrofotometrie atomová MeSH
• stopové prvky analýza   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH