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Most commonly occurring in elderly patients, the comminuted 4-part or Neer VI type proximal humerus fractures frequently necessitate complete shoulder replacement. Despite the recent advances in imaging technologies, there is still a need for more information about the degree of joint degeneration and changes of the collagen content of tendons to select the proper implant type. It is known that human long head biceps tendon subjected to synovial inflammation and mechanical wear could result in tear and structural damage. Differential scanning calorimetry has already been demonstrated to be a dependable in the assessment of collagen in degenerative tendon conditions. The purpose of the study was to determine whether variations in thermal parameters detected by DSC are related to the degenerative changes of LHBT samples. LHBT tendons were collected from patients who had reversed shoulder arthroplasty because of trauma. DSC was utilized to measure the thermodynamic changes. Macroscopical, radiological and histological assessment were also performed. Based on the thermal parameters and denaturation curves, LHBT samples collected of patients underwent reversed shoulder arthroplasty due to comminuted proximal humerus fracture have shown minimal or mild degenerative injuries. These data were supported by preoperative radiological examination and histological analysis. The authors suggest that DSC could be a useful investigative tool in the clinical evaluation of tendon injuries.

Despite advanced imaging techniques, more information on the extent of joint degeneration and modifications in tendon collagen content is required for selecting the appropriate type of shoulder prosthesis. The goal of this study was to compare the thermal parameters of various tissue samples from patients who had shoulder arthroplasty and to correlate the thermal shifts with the outcomes of radiological and histopathological assessments. Rotator cuff (ROC) tendon, hyaline cartilage, and subchondral bone samples were obtained throughout surgery for a comminuted 4-part proximal humerus fracture or cuff tear arthropathy. Thermal parameters were measured using differential scanning calorimetry and thermogravimetry (DTA/TG). ROC: The effect of advanced collagen damage was visible in denaturation curves of osteoarthritis samples. Only moderately increased thermal enthalpy and melting temperature were found in the tissue of the trauma patients. Cartilage: Thermal parameters revealed that structural change generated by pathologic conditions exceeded the effects of trauma. Bone: Thermal parameters from degenerative samples revealed more structural damage and calcification decrease than thermal parameters from trauma samples. Correlation: A statistically significant relationship between the extent of osteoarthritis and the thermal variables of cartilage and subchondral bone was discovered. Authors suggest that thermal analysis may be useful in the diagnostic process of orthopedic and posttraumatic shoulder diseases.

Bronchopulmonary dysplasia (BPD) is the most significant respiratory complication of prematurity, and its consequences last from birth into adulthood. Unfortunately, the dramatic improvements in the management of premature infants have not led to a decreased incidence of BPD, or to breakthroughs in treatments offered for this long-lasting chronic respiratory disorder. Over recent decades the pathological picture of BPD has changed from inflammation, interstitial fibrosis and emphysema attributed to volu-, barotrauma and oxygen toxicity to larger, simplified alveoli and dysmorphic vessels related to arrested alveolarization and vasculogenesis with inflammation maintaining a central role. Corticosteroids (CSs) play a key role in the development of respiratory epithelial cells and lung maturation. These potent anti-inflammatory agents have long been used for the prevention and treatment of BPD; however, the risk/benefit ratio of their use remains unresolved. CSs administered antenatally have contributed to reduce mortality and respiratory distress syndrome, no such effect on BPD reduction has been observed. Postnatal systemic CSs reduced the rate and severity of BPD, yet their long-term neurodevelopmental and respiratory consequences markedly limit routine administration. This is the first in a two-part State-of-the-Art series that reviews the latest relevant clinical trials investigating the short-term and long-term effects of CSs in the prevention and treatment of BPD.

Összefoglaló. Bevezetés: A Kawasaki-szindróma immunvasculitis, amely kezeletlenül kardiológiai szövődményekhez vezethet. A korai intravénás immunglobulin-terápia mérsékli a szövődményeket, de az esetek 10–20%-a rezisztens a kezelésre. Ennek előrejelzésére világszerte számos rizikóbecslő pontrendszert használnak. Célkitűzés: A Kobayashi- és a Kawanet-pontrendszer prediktív értékének vizsgálata betegeink intravénás immunglobulin-rezisztenciája és kardiológiai szövődményei vonatkozásában. Tudomásunk szerint ez az első magyarországi vizsgálat, amely Kawasaki-szindróma esetében pontrendszerek prediktív értékét méri fel. Módszer: Retrospektív pilotvizsgálatunkban kigyűjtöttük a 2005. január és 2020. április között Kawasaki-szindróma miatt ápolt betegeink adatait. Mindegyiküknél Kobayashi-, illetve Kawanet-pontot számoltunk, valamint megvizsgáltuk azok specificitását, szenzitivitását az intravénás immunglobulin-rezisztencia, illetve a kardiológiai szövődmények előrejelzése szempontjából. A Kobayashi-pontrendszerben 4, a Kawanet-pontrendszerben pedig 2 pont vagy annál magasabb érték jelez rizikót. Eredmények: Kawasaki-szindrómát 28 gyereknél véleményeztünk, 13 esetben észleltünk mérsékelt, 4 esetben súlyos szövődményt. 4 betegünk bizonyult intravénás immunglobulinra rezisztensnek. A rezisztencia szempontjából a Kobayashi-pontrendszer alacsony szenzitivitást (25%), illetve magas specificitást (91,6%), míg a Kawanet-pontrendszer mérsékelt szenzitivitást (50%) és specificitást (50%) mutatott. A szövődmények szempontjából hasonló eredményeket kaptunk, Kobayashi-pontrendszer: szenzitivitás: 17%; specificitás: 100%, illetve Kawanet-pontrendszer: szenzitivitás: 47%; specificitás: 45%. Következtetés: A legtöbb, nem ázsiai országban készült tanulmányhoz hasonlóan az intravénás immunglobulin-rezisztencia előrejelzésében a Kobayashi-pontrendszer vizsgálatunkban sem bizonyult hatékonynak. Ezzel szemben, magasabb szenzitivitása miatt, a Kawanet-pontrendszer intravénás immunglobulin-rezisztenciát előre jelző hatékonyságát érdemes lenne nagyobb esetszámban vizsgálni a hazai populációban is. A kardiológiai szövődmények előrejelzésére egyik pontrendszer sem bizonyult alkalmasnak. Orv Hetil. 2021; 162(47): 1885–1890. Summary. Introduction: Kawasaki disease is an immunovasculitis, which, without treatment, leads to cardiac complications. Early intravenous immunoglobulin therapy moderates complications, however, 10–20% of patients are resistant to the therapy. Numerous risk score systems are used worldwide to predict this. Objective: To assess the predictive value of the Kobayashi and Kawanet score systems regarding intravenous immunoglobulin resistance and cardiac complications in our department’s patient cohort. To our best knowledge, this is the first study in Hungary, which examines the predictive value of score systems in the case of Kawasaki disease. Method: In our study, we identified the patients treated for Kawasaki disease between January 2005 and April 2020. In each case, we calculated both the Kobayashi and the Kawanet score, and we examined their specificity and sensitivity regarding the prediction of intravenous immunoglobulin resistance and cardiac complications. In the Kobayashi score system, values above 4, in the Kawanet score system, values above 2 signal risk. Results: We identified 28 patients with Kawasaki disease. We observed moderate complications in 13, severe complications in 4 cases. 4 of our patients were resistant to intravenous immunoglobulin therapy. Regarding intravenous immunoglobulin resistance in our patient cohort, we detected low sensitivity (25%) and high specificity (91.6%) in the case of Kobayashi score, and moderate sensitivity (50%) and specificity (50%) in the case of Kawanet score. Regarding complications, we found similar results in the case of Kobayashi (sensitivity: 17%; specificity: 100%) and the Kawanet (sensitivity: 47%; specificity: 45%) score system. Conclusion: Similarly to the majority of non-Asian studies, we found the Kobayashi score system ineffective in predicting intravenous immunoglobulin resistance. However, due to its higher sensitivity, the predictive value of the Kawanet score system regarding intravenous immunoglobulin resistance is worth examining in a larger patient population in Hungary. Regarding the prediction of cardiac complications, both score systems were found to be ineffective. Orv Hetil. 2021; 162(47): 1885–1890.

Prior to shoulder replacement, the quality of cancellous bone stock of humerus head should be evaluated. Thermogravimetric analysis (TGA) has already been utilized to assess thermal stability of cancellous bone mineral, collected from the femoral head of patients with osteoarthritis and osteoporosis. Our workgroup has recently examined the thermal parameters of rotator cuff of patients undergoing reversed shoulder replacement. We hypothesized that TGA of humerus head would indicate difference in the bone quality of orthopedic and trauma patients. We also hypothesized that the calorimetric data could correlate with the grade of degenerative changes. Cylindrical subchondral humeral head samples were collected from patients subjected to reversed shoulder replacement due to orthopedic or trauma indications. Then, calorimetric parameters were measured using DTA/TG analysis. Radiological evaluation was also performed to classify the grade of osteoarthritis. In case of orthopedic samples, the calorimetric parameters indicated a moderate to severe degree of bone damage and loss of mineralization, because of the progressed osteoarthritis. Meanwhile, the trauma samples exhibited only moderate or minimal subchondral bone degeneration. DTA curves showed different patterns and indicated shifts in transition temperatures, comparing control and pathologic samples. In addition, correlation was found between the degree of osteoarthritis and calorimetric enthalpy. DTA/TG analysis of humerus head samples indicated marked differences in bone quality of orthopedic and trauma patients. Further investigation is needed to differentiate the calorimetric parameters of different layers of subchondral bone.

Shoulder replacement is a viable surgical treatment for comminuted proximal humerus fractures and shoulder osteoarthritis. Proper evaluation of hyaline cartilage is essential for the right choice of prosthesis; however, there are only a limited number of studies available investigating the cartilage of glenohumeral joint of patients undergoing shoulder replacement. We hypothesized that differential scanning calorimetry (DSC) could determine the grade of cartilage damage in patients undergoing reversed shoulder replacement, providing insights into the structural changes of the human cartilage samples. Sample of hyaline cartilage of glenohumeral joint was harvested during reversed shoulder replacement of orthopaedic and trauma patients. Thermal parameters were measured using DSC, and radiological examination of glenohumeral joint was also done prior to surgery. We have found that changes in thermal characteristics and DSC scans clearly indicate the severity of osteoarthritis and cartilage damage. The denaturation temperature range and the half-width of the heat flow curves were significantly wider in the orthopaedic samples compared to the control and traumatic ones. The calorimetric enthalpy (ΔHcal) exhibited significant differences in both pathologic samples, compared to the control. The melting temperatures (Tm) show that structural change caused by orthopaedic condition is greater than the effect of traumatic. Therefore, differential scanning calorimetry could help to determine the grade of cartilage damage in orthopaedic and trauma patients undergoing reversed shoulder replacement.

The assessment of rotator cuff tear prior to shoulder replacement is based on the physical findings and imaging procedures, preferably magnetic resonance imaging (MRI). However, MRI is not always available, and in trauma patients, the CT-scan-based classification of glenohumeral arthritis or tendon damage is generally not applicable. In case of 4-part dislocated proximal humerus fractures the right diagnosis is crucial prior to choose between different type protheses or osteosyntheses. Therefore, there is a need for novel methods for the evaluation of rotator cuff damage. Our aim was to evaluate whether differential scanning calorimetry (DSC) could determine the grade of rotator cuff damage in patients undergoing shoulder replacement. Small samples of rotator cuff tendons of patients undergoing reversed shoulder replacement due to orthopedic or trauma indications were resected during surgery, and thermal parameters were measured using DSC. Radiological evaluation was also performed to classify the degree of rotator cuff damage and glenohumeral arthritis. In case of orthopedic samples, the consequence of advanced tendon damage was well demonstrated by the shape and the running of the curves, compared to the control sample. In trauma samples, the moderately degenerated tendons also exhibited significant difference from the control in the shape of the scans and in the thermal parameters. DSC curves demonstrated a clear difference in the thermal parameters of healthy and pathologic samples. DSC could be a useful additional method in the evaluation of rotator cuff tear arthropathies in future studies.

The transition-metal complexes of phosphine and secondary phosphine oxide compounds can be used in various catalytic reactions. In this paper, the synthesis and characterization of eight new crown ethers containing trivalent phosphorus in their macroring are reported. These macrocycles are promising candidates as ligands for catalytic reactions.

This paper is the second in a two-part State-of-the-Art series that reviews the latest relevant clinical trials investigating the short-term and long-term effects of corticosteroids in the prevention and treatment of bronchopulmonary dysplasia (BPD). Inhaled postnatal corticosteroids demonstrate low systemic bioavailability and rapid systemic clearance with high pulmonary deposition and were expected to reduce the incidence of BPD with reduced adverse effects, however, increased rate of mortality in the neonatal period and at the 18-24 months follow-up was observed. In a milestone study, intratracheal instillation of corticosteroids combined with surfactant decreased the incidence of BPD without increasing the mortality or the long-term neurodevelopmental adverse outcomes. However, subsequent trials using different types of surfactants, different surfactant to budesonide ratio, different time of the drug administration for infants with different severity of respiratory distress syndrome could not reproduce all the beneficial effects. Future perspectives for the identification of premature infants at high risk of BPD and the prevention or treatment of established BPD are discussed.

The synthesis of the (R,R) and (S,S) enantiomers of a new enantiopure monophospha-18-crown-6 ether (1), which contains an anthracene fluorophore unit and methyl groups at its stereogenic centers, was accomplished. The structure of one enantiomer ((S,S)-1) was studied using one-dimensional (1H, 13C{1H}, and 31P{1H}) and two-dimensional NMR spectra. Because (R,R)-1 and (S,S)-1 can act as new fluorescent chemosensors, we examined their enantiomeric differentiation abilities toward the enantiomers of protonated chiral primary amines and amino acid esters (PEA, 1-NEA, PGME, PAME) using UV-Vis and fluorescence spectroscopies. These monophospha-crown ethers showed moderate enantiomeric discrimination abilities.

The synthesis of four new enantiopure crown ethers containing a diarylphosphinic acid unit has been carried out. As a continuation of our work in this field, the enantioselective transport ability of these ligands for chiral amines has been studied in an aqueous source phase/lipophilic organic bulk liquid membrane/aqueous receiving phase system controlled by the pH of the media. By altering the structures of the carriers we improved the enantioselectivity of the transport.

Összefoglaló. Bevezetés: A Kawasaki-szindróma immunvasculitis, amely kezeletlenül kardiológiai szövődményekhez vezethet. A korai intravénás immunglobulin-terápia mérsékli a szövődményeket, de az esetek 10-20%-a rezisztens a kezelésre. Ennek előrejelzésére világszerte számos rizikóbecslő pontrendszert használnak. Célkitűzés: A Kobayashi- és a Kawanet-pontrendszer prediktív értékének vizsgálata betegeink intravénás immunglobulin-rezisztenciája és kardiológiai szövődményei vonatkozásában. Tudomásunk szerint ez az első magyarországi vizsgálat, amely Kawasaki-szindróma esetében pontrendszerek prediktív értékét méri fel. Módszer: Retrospektív pilotvizsgálatunkban kigyűjtöttük a 2005. január és 2020. április között Kawasaki-szindróma miatt ápolt betegeink adatait. Mindegyiküknél Kobayashi-, illetve Kawanet-pontot számoltunk, valamint megvizsgáltuk azok specificitását, szenzitivitását az intravénás immunglobulin-rezisztencia, illetve a kardiológiai szövődmények előrejelzése szempontjából. A Kobayashi-pontrendszerben 4, a Kawanet-pontrendszerben pedig 2 pont vagy annál magasabb érték jelez rizikót. Eredmények: Kawasaki-szindrómát 28 gyereknél véleményeztünk, 13 esetben észleltünk mérsékelt, 4 esetben súlyos szövődményt. 4 betegünk bizonyult intravénás immunglobulinra rezisztensnek. A rezisztencia szempontjából a Kobayashi-pontrendszer alacsony szenzitivitást (25%), illetve magas specificitást (91,6%), míg a Kawanet-pontrendszer mérsékelt szenzitivitást (50%) és specificitást (50%) mutatott. A szövődmények szempontjából hasonló eredményeket kaptunk, Kobayashi-pontrendszer: szenzitivitás: 17%; specificitás: 100%, illetve Kawanet-pontrendszer: szenzitivitás: 47%; specificitás: 45%. Következtetés: A legtöbb, nem ázsiai országban készült tanulmányhoz hasonlóan az intravénás immunglobulin-rezisztencia előrejelzésében a Kobayashi-pontrendszer vizsgálatunkban sem bizonyult hatékonynak. Ezzel szemben, magasabb szenzitivitása miatt, a Kawanet-pontrendszer intravénás immunglobulin-rezisztenciát előre jelző hatékonyságát érdemes lenne nagyobb esetszámban vizsgálni a hazai populációban is. A kardiológiai szövődmények előrejelzésére egyik pontrendszer sem bizonyult alkalmasnak. Orv Hetil. 2021; 162(47): 1885-1890.Kawasaki disease is an immunovasculitis, which, without treatment, leads to cardiac complications. Early intravenous immunoglobulin therapy moderates complications, however, 10-20% of patients are resistant to the therapy. Numerous risk score systems are used worldwide to predict this.To assess the predictive value of the Kobayashi and Kawanet score systems regarding intravenous immunoglobulin resistance and cardiac complications in our department's patient cohort. To our best knowledge, this is the first study in Hungary, which examines the predictive value of score systems in the case of Kawasaki disease.In our study, we identified the patients treated for Kawasaki disease between January 2005 and April 2020. In each case, we calculated both the Kobayashi and the Kawanet score, and we examined their specificity and sensitivity regarding the prediction of intravenous immunoglobulin resistance and cardiac complications. In the Kobayashi score system, values above 4, in the Kawanet score system, values above 2 signal risk.We identified 28 patients with Kawasaki disease. We observed moderate complications in 13, severe complications in 4 cases. 4 of our patients were resistant to intravenous immunoglobulin therapy. Regarding intravenous immunoglobulin resistance in our patient cohort, we detected low sensitivity (25%) and high specificity (91.6%) in the case of Kobayashi score, and moderate sensitivity (50%) and specificity (50%) in the case of Kawanet score. Regarding complications, we found similar results in the case of Kobayashi (sensitivity: 17%; specificity: 100%) and the Kawanet (sensitivity: 47%; specificity: 45%) score system.Similarly to the majority of non-Asian studies, we found the Kobayashi score system ineffective in predicting intravenous immunoglobulin resistance. However, due to its higher sensitivity, the predictive value of the Kawanet score system regarding intravenous immunoglobulin resistance is worth examining in a larger patient population in Hungary. Regarding the prediction of cardiac complications, both score systems were found to be ineffective. Orv Hetil. 2021; 162(47): 1885-1890.

Enantioselective transport abilities of crown ethers containing a diarylphosphinic acid unit toward the enantiomers of chiral amines were studied through an aqueous source phase-lipophilic membrane...

Sir,In the present journal, the emergence of OXA-162-producing Klebsiella pneumoniae at a Hungarian paediatric clinic was recently reported as the first isolation of OXA-48-like carbapenemase-produ...

SUMMARY. Background:Lungfunctiondatainhealthynewborninfantsarescarcelargelydueto lack of suitable techniques, although data for developmental and prenatal exposure studies are much needed. We have modified the forced oscillation technique (FOT) for the measurement of respiratory mechanical impedance (Zrs) in unsedated sleeping infants in the first 3 days of life. Methods: Zrs was measured during 30-s epochs of quiet sleep in term neonates born via spontaneous vaginal delivery with a non-invasive FOT between 8 and 48Hz. Total respiratory resistance (R), compliance (C) and inertance (I) were obtained by fitting Zrs spectra. Cluster analysis was used to determine a set of minimal Zrs spectra representing optimal respiratory mechanics for each infant. Results: Successful measurements were obtained in each of the first 3 days in 30/38 (78.9%) neonates. Group mean (� SD) values of R, C, I, and resonant frequency pooled for the 3 days were 45.9 � 16.6hPasL � 1 , 0.97 � 0.21mlhPa � 1 , 0.082 � 0.031hPas 2 L � 1 and 19.2 � 3.2Hz, respectively. Within-session variability represented by coefficient of variation was 5.34 � 3.18% for R and 13.80 � 8.57% for C. Greater between-session variability was observed for the individual infants; however, the only statistically significant change over time was a 13% increase in R from day 1 to day 2. Parameter interdependence was significant (r 2 ¼0.63) between R and I reflecting thelarge contribution of theupper airways to the total Zrs. Conclusions: Noninvasive measurement of Zrs can be made in neonates during natural sleep with a high success rate, even in the first hours of life. Pediatr Pulmonol. 2014 Wiley Periodicals, Inc.

Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene ( NEB), proved to be responsible for this muscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novel mutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from the mother. Testing all family members supports genetic counseling.

Torque teno midi virus/small anellovirus (TTMDV/SAV) is a member of the family Anelloviridae. It has a single-stranded, circular, negative-sense DNA genome. Its pathogenic role in human disease remains to be confirmed. In this study, viral shedding, molecular epidemiology and genetic diversity of TTMDV/SAV were studied in human body fluids. Nasopharyngeal aspirates collected from children with acute respiratory disease were tested by PCR/nested PCR for TTMDV/SAV in two seasons (2005/2006, 2006/2007). Two years later, additional urine, stool, and serum samples and nasopharyngeal aspirates were collected from eight symptomless children for follow-up investigation. Forty-three (46.7%) of the 92 nasopharyngeal aspirates collected contained TTMDV/SAV. High genetic diversity was observed; however, identical sequences were also detected in two patients. The mean age of the infected children was 3 years (1 months-8 years), and 58% of them were female. Co-infection with RSV was detected in 23% of the samples. In a follow-up study, nasopharyngeal aspirates and serum of six (75%), stool samples of four (50%) and urine samples of two (25%) of the eight children were anellovirus-positive. None of the anellovirus sequences were identical in the two collection periods, but identical sequences were detected in different body fluids collected at the same time from the same child. TTMDV/SAVs shedding was detected in four human body fluids. As a consequence, it is possible that generalized infection and fecal/uro-oral transmission of TTMDV/SAV occur. TTMDV/SAVs are frequently present in nasopharyngeal aspirates, although the variants may only be transient agents. Further research is needed to investigate the pathogenesis and pathogenic role of TTMDV/SAV.

X-kromoszómához kötötten, recesszíven öröklődő myotubularis myopathia első magyar nyelven ismertetett esetét írják le a szerzők. Már megszületéskor súlyos izomhypotoniát, szegényes spontán mozgásokat, arthrogryposist és légzési elégtelenséget észleltek a betegben. Az izombiopszia a congenitalis myopathiák csoportjába tartozó myotubularis myopathia képét mutatta. A diagnózist megerősítette a molekuláris genetikai vizsgálat, amely egy – eddig nem ismert – frameshiftet eredményező mutációt (1314-1315insT) talált a myotubularint kódoló MTM1 -génben.

Lung function data in healthy newborn infants are scarce largely due to lack of suitable techniques, although data for developmental and prenatal exposure studies are much needed. We have modified the forced oscillation technique (FOT) for the measurement of respiratory mechanical impedance (Zrs) in unsedated sleeping infants in the first 3 days of life.Zrs was measured during 30-s epochs of quiet sleep in term neonates born via spontaneous vaginal delivery with a non-invasive FOT between 8 and 48 Hz. Total respiratory resistance (R), compliance (C) and inertance (I) were obtained by fitting Zrs spectra. Cluster analysis was used to determine a set of minimal Zrs spectra representing optimal respiratory mechanics for each infant.Successful measurements were obtained in each of the first 3 days in 30/38 (78.9%) neonates. Group mean (± SD) values of R, C, I, and resonant frequency pooled for the 3 days were 45.9 ± 16.6 hPa s L(-1), 0.97 ± 0.21 ml hPa(-1), 0.082 ± 0.031 hPa s(2) L(-1) and 19.2 ± 3.2 Hz, respectively. Within-session variability represented by coefficient of variation was 5.34 ± 3.18% for R and 13.80 ± 8.57% for C. Greater between-session variability was observed for the individual infants; however, the only statistically significant change over time was a 13% increase in R from day 1 to day 2. Parameter interdependence was significant (r(2) = 0.63) between R and I reflecting the large contribution of the upper airways to the total Zrs.Noninvasive measurement of Zrs can be made in neonates during natural sleep with a high success rate, even in the first hours of life.

Pontocerebellar hypoplasias are heterogeneous disorders that share a reduction in the size of brainstem and cerebellum. We describe a patient with features of the rare combination of pontocerebellar hypoplasia and spinal motor neuron disease. Parental consanguinity, low Apgar scores, facial weakness, dysphagia, tongue fasciculations, stridor, generalized hypotonia, severe muscle weakness, areflexia, and congenital joint contractures were evident. Cranial magnetic resonance imaging revealed a small cerebellum and brainstem, and a muscle biopsy revealed neurogenic changes. These abnormalities suggested pontocerebellar hypoplasia type 1.

Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.

Human enterovirus 109 (EV109) is a recently identified recombinant enterovirus in family Picornaviridae from acute paediatric respiratory illness in Nicaragua. EV109 have not been reported elsewhere. Our aims were the molecular detection and genetic analysis of EV109 from acute childhood respiratory infections in Hungary. Nasopharyngeal aspirates were collected from children under age of 10 years with acute respiratory infections treated in Department of Pulmonology, Kaposi Mór Teaching Hospital, Mosdós, Hungary. Samples were taken from 15 October to 15 May in two respiratory seasons 2005/2006 and 2006/2007. Samples were tested using EV109 specific VP1 primers by RT-PCR method. One (1.1%) of the 92 nasopharyngeal aspirates was positive for EV109 collected from a 2.5-year-old child in January, 2007. The main symptoms were dropping nose, fever (38.1°C), hard cough and wheezing associated with bronchitis and pneumonia. Based upon the VP1 gene region EV109 (L87/HUN/2007, JN900470) has 93% nucleotide identity and identical recombinant pattern to the prototype EV109. This is the first detection of the novel recombinant enterovirus, EV109, in Hungary (in Europe). This study supports the possibility that EV109 is able to cause acute respiratory infections, in addition, it might be plays a part in lower respiratory disease with hospitalization in children.

Az emberi légúti óriássejtes vírus (hRSV) a csecsemő- és kisgyermekkori légúti fertőzések, járványok egyik leggyakoribb kórokozója világszerte. A hRSV molekuláris epidemiológiája nem ismert hazánkban, ma azonban már lehetőség van a vírus genetikai szintű kimutatására és nyomon követésére e módszerrel. Célkitűzés: A szerzők célja a hRSV molekuláris kimutatása és a vírusok genetikai elemzése volt gyermekkori légúti fertőzésekből hazánkban. Módszer: A garatmosó folyadékok a mosdósi kórházban kezelt 10 év alatti, légúti fertőzésben szenvedő gyermekektől származtak két légúti szezonból (2005/2006 és 2006/2007) október 15. és május 15. között. A klinikai és epidemiológiai adatokat prospektív módon, formanyomtatványokon gyűjtöttük. A virális RNS fúziós (F) és glikoprotein (G) génjének felsokszorozását RT-PCR módszerrel végeztük, majd a termékeket szekvenáltuk és filogenetikailag elemeztük. Eredmények: A 104 légúti mintából 23 (22,1%) – 16 fiú (69,6%) és 7 lány (30,4%) – tartalmazott hRSV-t (az első szezonban: 1/49, 2%; a második szezonban: 22/55, 40%). A hRSV-fertőzések december és március között történtek. Az átlagéletkor 2,1 év (1 hónap–8 év) volt. A vezető tünetek a következők voltak: orrfolyás, láz, köhögés és légúti nehezítettség. A hRSV-fertőzött gyermekek 39,1%-ának voltak alapbetegségei. Az F-régió alapján 22 (96%) vírusgenetikailag az A típusba tartozott, 1 (4%) a B típusba volt sorolható. A 11 A típusú vírus közül 8 (72,7%) a GA5-ös, 3 (27,3%) a GA2-es csoportba tartozik a G-régió alapján. A vírusok nukleotidsorrendje több esetben azonos volt. Következtetések: A közleményben a hRSV két típusának (A és B) – tudomásunk szerint – első hazai, közvetlen molekuláris kimutatásáról és elemzéséről számolunk be, 10 éven aluli gyermekek légúti fertőzéseiből. A hRSV a gyermekkori, elsősorban a csecsemőkori kórházi kezelést igénylő légúti fertőzések jelentős kóroki tényezője a téli-tavaszi hónapokban.

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.

Human metapneumovirus was identified in 2001 as a respiratory-tract pathogen that has been classified as a new genera in family Paramyxoviridae.Molecular detection of human metapneumovirus in Hungary.Human metapneumovirus was identified in nasopharyngeal aspirate amplification of the viral fusion and nucleocapsid genes by reverse transcription-polymerase chain reaction followed by sequencing and phylogenetic analysis.A 4 years-old girl with chronic respiratory syndrome chronically treated with anti-asthma drugs was admitted to hospital in November 2005 with acute respiratory syndrome and atelectasis. Nasopharyngeal aspirate was negative for common bacteria by culture and for influenza and coronavirus by reverse transcription-polymerase chain reaction. By contrast, specimen was positive by reverse transcription-polymerase chain reaction and was confirmed by sequencing both genes (nucleocapsid and fusion) of human metapneumovirus. Human metapneumovirus (HUN 05-L20) clustered into the subgroup B1 has the closest nucleotide similarity (98%) to JPS03-194 (AY530094) detected in Japan.Human metapneumovirus contributes as an etiological agent of acute lower and upper respiratory tract infection especially in winter season in children with bronchiolitis, pneumonia or episodes of asthma exacerbation in Hungary, too.