Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94 %) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in a small percent of patients (∼1 %) mutations in the NOTCH2 gene have been described. Both genes are involved in the Notch signaling pathway. To date, over 440 different JAG1 gene mutations and ten NOTCH2 mutations have been identified in ALGS patients. The present study was conducted on a group of 35 Polish ALGS patients and revealed JAG1 gene mutations in 26 of them. Twenty-three different mutations were detected including 13 novel point mutations and six large deletions affecting the JAG1 gene. Review of all mutations identified to date in individuals from Poland allowed us to propose an effective diagnostic strategy based on the mutations identified in the reported patients of Polish descent. However, the distribution of mutations seen in this cohort was not substantively different than the mutation distribution in other reported populations

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

Adenosine kinase (ADK) deficiency is a rare inborn error of methionine and adenosine metabolism. So far, a total of 27 patients with ADK deficiency have been reported. Here, we describe the first Polish patient diagnosed with ADK deficiency, aiming to highlight the clinical presentation of disease, emphasize diagnostic difficulties, and report the long-term follow-up. Six-month-old patient presented with cholestatic liver disease, macrocytic anemia, developmental delay, generalized hypotonia, delayed brain myelination, and elevated levels of serum methionine. A decrease of mitochondrial respiratory chain complex II and III activity were found in the postnuclear supernatants obtained from skeletal muscle biopsy. The patient underwent living-donor liver transplantation (LTx) at 14 months of age. Ten-year follow-up after LTx revealed a preserved good liver function, persistent regenerative macrocytic anemia, progressive neurological disease but disappearance of brain MR changes, short stature, and cortisol deficiency. Whole exome sequencing revealed the patient to be affected with two novel ADK variants, which pathogenicity was confirmed biochemically by demonstration of elevated concentration of S-adenosylhomocysteine

Zastosowanie metody Kinesio Taping w zespole bolesnego barku

Introduction. The painful shoulder syndrome is becoming an increasingly frequent pathology for both sexes at different ages. Its diagnosis and treatment still cause many problems. They result from a complicated anatomical and biomechanical structure, rich innervation and diversity of symptoms of the shoulder dysfunction.Aim. The assessment of Kinesio Taping method impact on pain reduction and improvement in muscle strength and range of the shoulder motion in patients with painful shoulder syndrome.Material and methods. The study included 20 patients, in whom during the clinical examination carried out by a specialist of orthopedics and traumatology, a painful shoulder syndrome was recognized. Patients were evaluated by the numerical pain scale of NRS, muscle strength Lovett scale and range of motion in the shoulder joint by goniometry. The study was carried out on qualification day and in the period from 5 to 7 days after the Kinesio Taping method.Results. 55% of the respondents were women (mean age 66 years), 45% were male (mean age 62.7 years). The level of pain perception in patients after treatment was 35% lower than before the Kinesio Taping method. The largest increase in mobility (11.72%) was found in the shoulder joint extension motion. Muscle strength after treatment increased from 15% to 20%.Conclusions. Kinesio Taping reduces pain and improves muscle strength, but is it not a method that significantly improves the range of motion in the joint.Wstęp. Zespół bolesnego barku jest coraz częstszą patologią dotyczącą obu płci w różnym wieku. Diagnostyka oraz leczenie zespołu bolesnego barku wciąż nastręcza wiele problemów. Wynikają one ze skomplikowanej struktury anatomicznej i biomechanicznej, bogatego unerwienia oraz różnorodności objawów dysfunkcji stawu barkowego.Cel pracy. Ocena wpływu metody Kinesio Taping na zmniejszenie dolegliwości bólowych i poprawę siły mięśniowej i zakresu ruchomości stawu barkowego u pacjentów z zespołem bolesnego barku.Materiał i metodyka. Do badania włączono 20 chorych, u których na podstawie badania klinicznego przeprowadzanego przez specjalistę ortopedii i traumatologii, został rozpoznany zespół bolesnego barku. Pacjentów poddano ocenie dolegliwości bólowych wg numerycznej skali NRS, siły mięśniowej wg skali Lovetta oraz zakresu ruchomości w stawie barkowym metodą goniometrii. Badanie było przeprowadzane w dniu kwalifikacji oraz w okresie od 5 do 7 dni po zastosowaniu metody Kinesio Taping.Wyniki. Badania przeprowadzono wśród 20 osób. 55% badanych to kobiety (średnia wieku 66 lat), 45% stanowili mężczyźni (średnia wieku 62, 7 lat). Poziom odczuwania bólu u pacjentów po terapii był o 35% mniejszy niż przed zastosowaniem metody Kinesio Taping. Największy przyrost ruchomości (11, 72%) stwierdzono w ruchu wyprostu w stawie ramiennym. Siła mięśniowa po terapii wzrosła od 15% do 20%.Wnioski. Kinesio Taping zmniejsza dolegliwości bólowe oraz zwiększa siłę mięśniową, lecz nie jest metodą, która znacząco wpływa na poprawę zakresu ruchomości w stawie

Effect of McKenzie method on the severity and location of pain in patients with lumbo-sacral discopathy

Lumbar spine discopathy is a serious social and economical problem in both our country and around the world. The severity of pain significantly impairs the performance of basic activities such as: dressing, walking, sitting, sleeping, traveling, social and sexual life that make up the quality of life. The aim of the study is to investigate the effect of rehabilitation conducted by McKenzie method on the value and localization of pain ailments. The study included 45 patients treated for pain ailments accompanying lumbar discopathy, in whom the analogue VAS scale was used to assess pain. There was no effect of gender, age and number of episodes of pain on the location of the pain. Pain ailments increased during bending (95.6%, N = 43), standing up (88.9%, N = 40) and standing (48.9%, N = 22), and decreased during lying down (77.8%, N = 35) and walking (73.3%, N = 33). McKenzie method treatment significantly influenced the location of the pain, because prior to treatment, patients experienced pain: within the leg and foot (40%, N = 18), thighs (36%, N = 16) and sacrum (24%, N = 11) and after therapy, these proportions were : 0%: 4%: 29% and 67% , respectively experienced no pain. Pain rated on a VAS scale decreased significantly from 6.58 ± 1.6 to 0.76 ± 0.86. Number of patients taking painkillers directly (66.7%, N = 30) and consistently (22.2%, N = 10) after the treatment was limited to only 1 patient receiving medications directly (2.22%, N = 1). McKenzie therapy significantly reduces the severity of pain ailments associated with lumbar discopathy, and also limits their range.Dyskopatia odcinka lędźwiowo-krzyżowego kręgosłupa stanowi poważny problem społeczny i ekonomiczny zarówno w naszym kraju jak i na świecie. Nasilenie dolegliwości bólowych w znaczny sposób upośledzają wykonywanie podstawowych czynności składających się, na jakość życia, takich jak: ubieranie, chodzenie, siedzenie, spanie, podróżowanie, życie seksualne i socjalne. Celem pracy jest zbadanie wpływu rehabilitacji prowadzonej metodą McKenziego na wielkość i lokalizację dolegliwości bólowych. Badaniem objęto 45 pacjentów leczonych z powodu dolegliwości bólowych towarzyszących dyskopatii odcinka lędźwiowo-krzyżowego, u których do oceny bólu zastosowano analogową skalę VAS. Nie stwierdzono wpływu płci, wieku i liczby epizodów bólowych na lokalizację bólu. Dolegliwości bólowe narastały przy zginaniu (95, 6%; N=43), wstawaniu (88, 9%; N=40) i staniu (48, 9%; N=22), a zmniejszały w trakcie leżenia (77, 8%; N=35) i chodzenia (73, 3%; N=33). Leczenie metodą McKenziego wpłynęło istotnie statystycznie na lokalizację bólu, gdyż przed terapią pacjenci odczuwali ból: w obrębie goleni i stopy (40%; N=18), uda (36%; N=16) i krzyża (24%; N=11), a po terapii proporcje te kształtowały się odpowiednio: 0%: 4% : 29%, a u 67% nie występowały dolegliwości bólowe. Dolegliwości bólowe oceniane w skali VAS zmniejszyły się istotnie z 6, 58± 1, 6 do 0,76 ±0,86. Liczba pacjentów przyjmujących leki przeciwbólowe doraźnie (66, 7%; N=30) i stale (22, 2%; N=10) po terapii ograniczyła się tylko do 1 pacjenta przyjmującego leki doraźnie (2, 22%; N=1). Terapia McKenziego zmniejsza w stopniu istotnym nasilenie dolegliwości bólowych związanych z dyskopatią odcinka lędźwiowo-krzyżowego, a także ogranicza ich zasięg

Wpływ metody Mckenziego na nasilenie i lokalizację bólu u pacjentów z dyskopatią odcinka lędźwiowo-krzyżowego

Lumbar spine discopathy is a serious social and economical problem in both our country and around the world. The severity of pain significantly impairs the performance of basic activities such as: dressing, walking, sitting, sleeping, traveling, social and sexual life that make up the quality of life.The aim of the study is to investigate the effect of rehabilitation conducted by McKenzie method on the value and localization of pain ailments.The study included 45 patients treated for pain ailments accompanying lumbar discopathy, in whom the analogue VAS scale was used to assess pain.There was no effect of gender, age and number of episodes of pain on the location of the pain. Pain ailments increased during bending (95.6%, N = 43), standing up (88.9%, N = 40) and standing (48.9%, N = 22), and decreased during lying down (77.8%, N = 35) and walking (73.3%, N = 33). McKenzie method treatment significantly influenced the location of the pain, because prior to treatment, patients experienced pain: within the leg and foot (40%, N = 18), thighs (36%, N = 16) and sacrum (24%, N = 11) and after therapy, these proportions were : 0%: 4%: 29% and 67% , respectively experienced no pain. Pain rated on a VAS scale decreased significantly from 6.58 ± 1.6 to 0.76 ± 0.86. Number of patients taking painkillers directly (66.7%, N = 30) and consistently (22.2%, N = 10) after the treatment was limited to only 1 patient receiving medications directly (2.22%, N = 1).McKenzie therapy significantly reduces the severity of pain ailments associated with lumbar discopathy, and also limits their range.Dyskopatia odcinka lędźwiowo-krzyżowego kręgosłupa stanowi poważny problem społeczny i ekonomiczny zarówno w naszym kraju jak i na świecie. Nasilenie dolegliwości bólowych w znaczny sposób upośledzają wykonywanie podstawowych czynności składających się, na jakość życia, takich jak: ubieranie, chodzenie, siedzenie, spanie, podróżowanie, życie seksualne i socjalne.Celem pracy jest zbadanie wpływu rehabilitacji prowadzonej metodą McKenziego na wielkość i lokalizację dolegliwości bólowych.Badaniem objęto 45 pacjentów leczonych z powodu dolegliwości bólowych towarzyszących dyskopatii odcinka lędźwiowo-krzyżowego, u których do oceny bólu zastosowano analogową skalę VAS.Nie stwierdzono wpływu płci, wieku i liczby epizodów bólowych na lokalizację bólu. Dolegliwości bólowe narastały przy zginaniu (95, 6%; N=43), wstawaniu (88, 9%; N=40) i staniu (48, 9%; N=22), a zmniejszały w trakcie leżenia (77, 8%; N=35) i chodzenia (73, 3%; N=33). Leczenie metodą McKenziego wpłynęło istotnie statystycznie na lokalizację bólu, gdyż przed terapią pacjenci odczuwali ból: w obrębie goleni i stopy (40%; N=18), uda (36%; N=16) i krzyża (24%; N=11), a po terapii proporcje te kształtowały się odpowiednio: 0%: 4% : 29%, a u 67% nie występowały dolegliwości bólowe. Dolegliwości bólowe oceniane w skali VAS zmniejszyły się istotnie z 6, 58± 1, 6 do 0,76 ±0,86. Liczba pacjentów przyjmujących leki przeciwbólowe doraźnie (66, 7%; N=30) i stale (22, 2%; N=10) po terapii ograniczyła się tylko do 1 pacjenta przyjmującego leki doraźnie (2, 22%; N=1).Terapia McKenziego zmniejsza w stopniu istotnym nasilenie dolegliwości bólowych związanych z dyskopatią odcinka lędźwiowo-krzyżowego, a także ogranicza ich zasięg

Cladosporium spores in the air of selected Polish cities in 2015

The aim of the study was to compare the concentration of Cladosporium spores in the cities of Katowice, Cracow, Olsztyn, Piotrkow Trybunalski, Szczecin, Warsaw, and Zielona Gora in 2015. Measurements were performed by the volumetric method (Burkard and Lanzoni pollen and spores sampler). Cladosporium season was defined as the period in which 90% of the annual total catch occurred. The Cladosporium season started first in Zielona Gora on the 27th April and in the other cities it started during the next days. The latest the fungal season started in Szczecin. The number of days with spores count above 2800 spores in 1 m3 ranged from 15 to 63

Evolution of glassy carbon under heat treatment : correlation structure-mechanical properties

In order to accommodate an increasing demand for glassy carbon products with tailored characteristics, one has to understand the origin of their structure-related properties. In this work, through the use of high-resolution transmission electron microscopy, Raman spectroscopy, and electron energy loss spectroscopy it has been demonstrated that the structure of glassy carbon at different stages of the carbonization process resembles the curvature observed in fragments of nanotubes, fullerenes, or nanoonions. The measured nanoindentation hardness and reduced Young’s modulus change as a function of the pyrolysis temperature from the range of 600–2500 °C and reach maximum values for carbon pyrolyzed at around 1000 °C. Essentially, the highest values of the mechanical parameters for glassy carbon manufactured at that temperature can be related to the greatest amount of non-planar sp2-hybridized carbon atoms involved in the formation of curved graphene-like layers. Such complex labyrinth- like structure with sp2-type bonding would be rigid and hard to break that explains the glassy carbon high strength and hardness

Alternaria spores in the air of selected Polish cities in 2015

The aim of the study was to compare the concentration of Alternaria spores in the cities of Poznan, Bydgoszcz, Sosnowiec, Piotrkow Trybunalski, Olsztyn, Opole, Warsaw, Zielona Gora, Lublin and Szczecin in 2015. Measurements were performed by the volumetric method (Hirst). Alternaria season was defined as the period in which 90% of the annual total catch occurred. The Alternaria season started first in Bydgoszcz on the 27th May and in the other cities it started during the next four weeks. The highest airborne concentration of 900 Alternaria spores × m-3 was noted in Lublin on the 4th July

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome

Introduction: Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11. In SRS, the 2 most frequent molecular abnormalities are hypomethylation (loss of methylation) of region H19/IGF2:IG-DMR on chromosome 11p15.5 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Therapy with recombinant human growth hormone (rhGH) is implemented to increase body height in children with SRS. The effect of the administered rhGH on height, weight, body mass index (BMI), body composition, and height velocity in patients with SRS during 3 years of rhGH therapy was analysed. Material and methods: 31 SRS patients (23 with 11p15 LOM, 8 with upd(7)mat) and 16 patients small for gestational age (SGA) as a control group were diagnosed and followed up in The Children’s Memorial Health Institute. Patients were eligible for the 2 Polish rhGH treatment programmes [for patients with SGA or with growth hormone deficiency (GHD)]. Anthropometric parameters were collected in all patients. Body composition using bioelectrical impedance was measured in 13 SRS and 14 SGA patients. Results: Height, weight, and weight for height (SDS) at baseline of rhGH therapy were lower in SRS patients than in the SGA control group: –3.3 ± 1.2 vs. -2.6 ± 06 (p = 0.012), –2.5 vs. -1.9 (p = 0.037), –1.7 vs. –1.1 (p = 0.038), respectively. Height SDS was increased from –3.3 ± 1.2 to –1.8 ± 1.0 and from –2.6 ± 0.6 to –1.3 ± 0.7 in the SRS and SGA groups, respectively. Patients with 11p15 LOM and upd(7)mat achieved similar height, 127.0 ± 15.7 vs. 128.9 ± 21.6 cm, and –2.0 ± 1.3 vs. –1.7 ± 1.0 SDS, respectively. Fat mass percentage decreased in SRS patients from 4.2% to 3.0% (p < 0.05) and in SGA patients from 7.6% to 6.6% (p < 0.05). Conclusions: Growth hormone therapy has a positive influence on the growth of SRS patients. Regardless of molecular abnormality type (11p15 LOM vs. upd(7)mat), height velocity was similar in SRS patients during 3 years of rhGH therapy

Oak pollen in the air of Poland in 2017

The aim of the study was to compare the pollen season of oak in the cities of Bialystok, Bydgoszcz, Cracow, Katowice, Piotrkow Trybunalski, Lublin, Olsztyn, Opole, Szczecin, Warsaw, Wroclaw and Zielona Gora in 2017. Measurements were performed by the volumetric method (Hirst type pollen sampler). Seasonal Pollen Index (SPI) was estimated as the sum of daily average pollen concentrations in the given season. Pollen season was defined as the period in which 98% of the annual total catch occurred. The pollen season of oak started first in Szczecin, on the 1st April, and lasted till the end of May. At the latest pollen season ended in Olsztyn on the 1st June. However, in the most of other cities the season lasted till the end of May. The differences of pollen seasons duration were considerables from 28 to 56 days. The highest, record airborne concentration of 342 pollen grains/m3 was noted in Warsaw on the 17th May. The maximum values of seasonal pollen count occurred between of 11th and 20th May. The highest oak pollen allergen hazard occurred in 2017 in Piotrkow Trybunalski, Lublin and Warsaw