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    Wyświetlanie 1-9 z 9
    Tytuł:
    A 16-year-old patient with Charcot Marie Tooth disease in variant c.217G>C of the INF2 gene and focal glomerulosclerosis – a case report
    Autorzy:
    Przygoda, Maria
    Matias, Dawid
    Jurczak, Maciej
    Sokołowska, Aldona
    Raba, Karolina
    Wołkanowski, Juliusz
    Rydzanicz, Małgorzata
    Kosińska, Joanna
    Płoski, Rafał
    Aebisher, David
    Pyrkosz, Antoni
    Powiązania:
    https://bibliotekanauki.pl/articles/2040499.pdf
    Data publikacji:
    2021-12-30
    Wydawca:
    Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
    Tematy:
    exome sequencing
    neuropathy
    nephropathy
    Opis:
    Introduction. Charcot Marie Tooth disease (CMT) is currently one of the most commonly diagnosed and commonly hereditary sensorimotor neuropathies. Concluding from the literature, this is the first study describing the case of a patient with CMT disease in the c.217G> C variant of the INF2 gene and focal segmental glomerulosclerosis. Aim. To present a case of a 16-year-old patient suffering from CMT disease in variant c.217G> C of the INF2 gene and focal glomerulosclerosis. Description of the case. The text describes the CMT disease in a patient who underwent the WES / WGS-NGS genetic test and found a mutation within the INF2 gene at the chromosomal position hg38 14: 104701582-G> C, cDNA level c.217 G> C , notation at the p protein level (Gly73Arg). Genotype record according to Human Genome Variation Society: NM_022489.4: c. [217G> C]; [217 =]. The publication includes data on genetics, molecular mechanisms of the disease, diagnostic methods, rehabilitation and surgical treatment. Conclusion. CMT disease is a heterogeneous group of diseases caused by mutations in various genes. The incidence of this pathology has increased significantly in the last century. Currently, there are no treatments available to combat this disease, and symptomatic treatment is the only treatment available.
    Źródło:
    European Journal of Clinical and Experimental Medicine; 2021, 4; 341-346
    2544-2406
    2544-1361
    Pojawia się w:
    European Journal of Clinical and Experimental Medicine
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    A cross-sectional study of the upper limb non-neurogenic physical findings in computer operators and their relation to pain and neurological findings
    Autorzy:
    Jepsen, Kasper R.
    Thomsen, Gert F.
    Jepsen, Jørgen R.
    Powiązania:
    https://bibliotekanauki.pl/articles/2095494.pdf
    Data publikacji:
    2021-09-03
    Wydawca:
    Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
    Tematy:
    pain
    comorbidity
    physical examination
    computer operation
    musculoskeletal disorders
    neuropathy
    Opis:
    ObjectivesThe character of upper limb disorders in computer operators is subject to debate. While nerve involvement is suggested by the presenceof pain, paresthesia and subjective weakness, these symptoms are mainly interpreted as related to pathologies outside the nervous system. Findings in a previous study involving computer operators indicated peripheral nerve afflictions with specific locations in symptomatic subjects. Based on the same sample, this study addresses the relation of non-neurogenic findings to pain and neurological findings.Material and MethodsOverall, 96 computer operators scored their perceived pain in the neck, shoulder, elbow, and wrist/hand on a Visual Analogue Scale of 0–9. They underwent 2 sets of blinded physical examinations of selected non-neurogenic and neurological items, respectively. The authors analyzed correlations between the scores of each non-neuropathic finding, and a) mean pain scores for each and all regions, and b) scores for neurological patterns reflecting brachial plexopathy, median neuropathy (the elbow), and posterior interosseous neuropathy, respectively, and their combination. Kendall’s rank correlation test was applied for all statistical analyses.ResultsA median pain level of 1 or 0.5 was reported by 80 and 57 participants on the mouse-operating or contralateral side, respectively. Non-neurogenic and neurological findings were frequent. The mean overall pain correlated with palpation soreness of the neck insertions, and of the trapezius and supraspinatus muscles. Neck and elbow pain correlated with palpation soreness at the neck insertions and the lateral epicondyles, respectively. Significant correlations on the mouse-operating side were identified between posterior interosseous neuropathy and lateral epicondyle soreness, and between median neuropathy and any neurological pattern, and trapezius and lateral epicondyle soreness. Conclusions Pain correlated with palpation soreness, which again correlated with the neurological patterns. Palpation soreness may be less significant as a marker of a painful disorder as it correlated no better with regional than with overall pain. The physical examination of computer operators should include a sufficient neurological assessment.
    Źródło:
    International Journal of Occupational Medicine and Environmental Health; 2021, 34, 5; 679-691
    1232-1087
    1896-494X
    Pojawia się w:
    International Journal of Occupational Medicine and Environmental Health
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Neurological and neurophysiological examinations of workers exposed to arsenic levels exceeding hygiene standards
    Autorzy:
    Sińczuk-Walczak, Halina
    Janasik, Beata M.
    Trzcinka-Ochocka, Małgorzata
    Stanisławska, Magdalena
    Szymczak, Maria
    Hałatek, Tadeusz
    Walusiak-Skorupa, Jolanta
    Powiązania:
    https://bibliotekanauki.pl/articles/2179016.pdf
    Data publikacji:
    2014-12-01
    Wydawca:
    Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
    Tematy:
    occupational exposure
    arsenic speciation
    nervous system
    neuropathy
    neurophysiological test
    Opis:
    Objectives: The assessment of the neurotoxic effect of arsenic (As) and its inorganic compounds is still the subject of interest due to a growing As application in a large array of technologies and the need to constantly verify the principles of prevention and technological parameters. The aim of this study was to determine the status of the nervous system (NS) in workers exposed to As at concentrations exceeding hygiene standards (Threshold Limit Values (TLV) – 10 μg/m³, Biological Exposure Index (BEI) – 35 μg/l) and to analyze the relationship between the NS functional state, species of As in urine and As levels in the workplace air. Material and Methods: The study group comprised 21 men (mean age: 47.43±7.59) employed in a copper smelting factory (mean duration of employment: 22.29±11.09). The control group comprised 16 men, matched by age and work shifts. Arsenic levels in the workplace air (As-A) ranged from 0.7 to 92.3 μg/m³; (M = 25.18±28.83). The concentration of total arsenic in urine (Astot-U) ranged from 17.35 to 434.68 μg/l (M = 86.82±86.6). Results: Syndrome of peripheral nervous system (PNS) was manifested by extremity fatigue (28.6%), extremity pain (33.3%) and paresthesia in the lower extremities (33.3%), as well as by neuropathy-type mini-symptoms (23.8%). Electroneurographic (ENeG) tests of peroneal nerves showed significantly decreased response amplitude with normal values of motor conduction velocity (MCV). Stimulation of sural nerves revealed a significantly slowed sensory conduction velocity (SCV) and decreased sensory potential amplitude. Neurophysiological parameters and the results of biological and environmental monitoring showed a relationship between $\text{As}^\text{tot}$, $\text{As}^\text{III}$ (trivalent arsenic), the sum of iAs ($\text{As}^\text{III}+\text{As}^\text{V}$ (pentavalent arsenic))+MMA (monomethylarsonic acid) concentration in urine and As levels in the air. Conclusions: The results of the study demonstrate that occupational exposure to inorganic arsenic levels exceeding hygiene standards (TLV, BEI) generates disorders typical of peripheral neuropathy.
    Źródło:
    International Journal of Occupational Medicine and Environmental Health; 2014, 27, 6; 1013-1025
    1232-1087
    1896-494X
    Pojawia się w:
    International Journal of Occupational Medicine and Environmental Health
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Prevalence of carpal tunnel syndrome and its correlation with pain amongst female hairdressers
    Autorzy:
    Demiryurek, Bekir Enes
    Aksoy Gündoğdu, Aslı
    Powiązania:
    https://bibliotekanauki.pl/articles/2159914.pdf
    Data publikacji:
    2017-12-21
    Wydawca:
    Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
    Tematy:
    pain
    carpal tunnel syndrome
    hairdressers
    female workers
    Boston questionnaire
    neuropathy
    Opis:
    Objectives Carpal tunnel syndrome (CTS) may develop with repetitive and forced movements of the hands and wrists. In this study, we have aimed to evaluate whether the frequency of CTS is increased amongst female hairdressers as compared with unemployed women or not. Besides, we have also analyzed whether the functionality and pain intensity levels amongst female hairdressers with CTS are different from the ones of unemployed women with CTS or not. Material and Methods The consecutive female hairdressers and unemployed women who had referred to our electroneuromyography (ENMG) laboratory for the upper extremity nerve conduction studies were included. They were evaluated in terms of clinical and ENMG findings, socio-demographic characteristics, functionality and pain intensity levels determined with the Boston CTS Questionnaire and visual analog scale (VAS). Results In this study, 110 women (70 female hairdressers and 40 unemployed women) were included. The frequency of CTS among hairdressers (74.3%) was higher than the one of the unemployed control group (55%) (p = 0.032). We detected that as the time period of occupation in hairdressing increased, the risk of developing CTS also increased among hairdressers (p < 0.001). Additionally, pain intensity and functional loss levels were higher for hairdressers with CTS than those for the control group with CTS (p = 0.005, p < 0.001, p = 0.028, respectively). Conclusions The frequency of CTS is elevated for female hairdressers with respect to the unemployed women as in many other occupations requiring forced or repetitive hand movements. Besides, the occupational exposure in hairdressing also results in more elevated pain intensity and functional loss levels related with CTS as compared with the unemployed subjects. Int J Occup Med Environ Health 2018;31(3):333–339
    Źródło:
    International Journal of Occupational Medicine and Environmental Health; 2018, 31, 3; 333-339
    1232-1087
    1896-494X
    Pojawia się w:
    International Journal of Occupational Medicine and Environmental Health
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Bilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study
    Autorzy:
    Lewańska, Magdalena
    Grzegorzewski, Andrzej
    Walusiak-Skorupa, Jolanta
    Powiązania:
    https://bibliotekanauki.pl/articles/2177050.pdf
    Data publikacji:
    2015-11-24
    Wydawca:
    Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
    Tematy:
    ulnar nerve
    ulnar nerve compression
    ulnar neuropathies
    hypermobility
    neuropathy
    computer
    Opis:
    Occupational ulnar neuropathy at the elbow joint develops in the course of long term direct pressure on the nerve and a persistently flexed elbow posture, but first of all, it is strongly associated with “holding a tool in a certain position” repetitively. Therefore, computer work only in exceptional cases can be considered as a risk factor for the neuropathy. Ulnar hypermobility at the elbow might be one of the risk factors in the development of occupational ulnar neuropathy; however, this issue still remains disputable. As this condition is mostly of congenital origin, an additional factor, such as a direct acute or chronic professional or non-professional trauma, is needed for clinical manifestations. We describe a patient – a computer user with a right ulnar nerve complete dislocation and left ulnar nerve hypermobility, unaware of her anomaly until symptoms of left ulnar neuropathy occurred in the course of job exposure. The patient was exposed to repetitive long lasting pressure of the left elbow and forearm on the hard support on the cupboard and desk because of a non-ergonomically designed workplace. The additional coexistent congenital abnormal displacement of the ulnar nerve from the postcondylar groove during flexion at the elbow increased the possibility of its mechanical injury. We recognized left ulnar neuropathy at the ulnar groove as an occupational disease. An early and accurate diagnosis of any form of hypermobility of ulnar nerve, informing patients about it, prevention of an ulnar nerve injury as well as compliance with ergonomic rules are essential to avoid development of occupational and non-occupational neuropathy.
    Źródło:
    International Journal of Occupational Medicine and Environmental Health; 2016, 29, 3; 517-522
    1232-1087
    1896-494X
    Pojawia się w:
    International Journal of Occupational Medicine and Environmental Health
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Fluorochinolony. Bezpieczeństwo terapii
    Fluoroquinolones: safety of therapy
    Autorzy:
    Dziedzic, Anna
    Leks-Sadowska, Sylwia
    Chronowska, Justyna
    Madej, Andrzej
    Powiązania:
    https://bibliotekanauki.pl/articles/527385.pdf
    Data publikacji:
    2017
    Wydawca:
    Krakowska Akademia im. Andrzeja Frycza Modrzewskiego
    Tematy:
    fluorochinolony
    neuropatia
    zakażenie
    zespół Guillaina-Barrégo
    fluoroquinolones
    neuropathy
    infection
    Guillain-Barré syndrome
    Opis:
    Fluorochinolony (m.in. ciprofl oksacyna, moksyfl oksacyna, lewofl oksacyna, gemifl oksacyna) są antybiotykami skutecznymi, powszechnie stosowanymi i o szerokim spektrum aktywności bakteriobójczej. Znajdują zastosowanie m.in. w zakażeniach układu oddechowego, układu moczowego, skóry i tkanki podskórnej, a nawet miejscowo w okulistyce. Niestety powodują szereg efektów ubocznych. Amerykańska Agencja ds. Żywności i Leków (FDA) informuje, że działania niepożądane fl uorochinolonów przeważają nad korzyściami wynikającymi z ich zastosowania u chorych z ostrym zapaleniem zatok, ostrym zapaleniem oskrzeli i niepowikłanym zakażeniem układu moczowego. Poza znanymi od dawna działaniami ubocznymi fl uorochinolonów, takimi jak tendinopatia, zapalenie i zerwanie ścięgien piętowych (Achillesa), powikłania żołądkowo-jelitowe, zakażenie, zapalenie jelit i biegunka Clostridium diffi cile, powikłania dotyczące ośrodkowego układu nerwowego (neurotoksyczność), hepatotoksyczność, hipo- i hiperglikemia oraz zaburzenia rytmu serca (m.in. torsade de pointes) i nagły zgon sercowy jako konsekwencja wydłużenia odstępu QT elektrokardiogramu – zwraca się uwagę na nowe, czyli neuropatie, a wśród nich najcięższą postać – zespół Guillaina-Barrégo.
    Fluoroquinolones (i.e. ciprofl oxacin, moxifl oxacin, levofl oxacin, gemifl oxacin) are effective, commonly used broad-spectrum antibacterial drugs. They are used in infections of the respiratory system, urinary tract, skin, and subcutaneous tissue and, even topically in ophthalmology. Unfortunately, they cause many adverse effects. The US Food and Drug Administration (FDA) states that their adverse effects outweigh the benefi ts of using them in patients with acute sinusitis, acute bronchitis, and uncomplicated urinary tract infection. The well-known adverse effects of fl uoroquinolones include Achilles tendinopathy, tendon rupture, gastrointestinal complications, Clostridium diffi cile infection, central nervous system dysfunction, hepatotoxicity, hypoglycemia and hyperglycemia, QT interval prolongation, cardiac arrhythmia (including torsade de pointes) and sudden cardiac death. Nowadays, attention is drawn to neuropathies, the most severe of which is Guillain-Barré syndrome.
    Źródło:
    Państwo i Społeczeństwo; 2017, 4; 125-132
    1643-8299
    2451-0858
    Pojawia się w:
    Państwo i Społeczeństwo
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Factors determining the effectiveness of conservative treatment in patients with carpal tunnel syndrome
    Autorzy:
    Zwolińska, Jolanta
    Kwolek, Andrzej
    Powiązania:
    https://bibliotekanauki.pl/articles/2161997.pdf
    Data publikacji:
    2019-04-03
    Wydawca:
    Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
    Tematy:
    occupational diseases
    carpal tunnel syndrome
    neuropathy
    repetitive overuse
    physical therapy techniques
    sonotherapy
    Opis:
    Objectives The study aims to assess selected factors contributing to the long-term effects of the conservative treatment of carpal tunnel syndrome (CTS). Material and Methods Forty-nine individuals diagnosed with CTS were enrolled in the study. The symptoms resulted from occupational hand overuse in 37 patients. The assessment involved 78 hands before the therapy (study 1) and 1 year after the end of the therapy (study 2). The clinical symptoms assessed included: pain, numbness, tingling, morning stiffness, vegetative disorders and difficulties in activities of daily living (ADL). The range of motion (ROM) in the hand joints and the pressure generated during the cylindrical grip were measured. Phalen’s tests, an electrodiagnostic test and a 2-point discrimination study were performed. Results A significant reduction of symptoms and improvement in tested parameters were found in study 2. The largest ROM in the hand, the lowest level of pain and the largest reduction in the frequency of daytime tingling were found in the oldest patients in study 2. In subjects with better initial electrodiagnostic test results, a significant reduction in daytime numbness and daytime tingling was obtained. In individuals previously subjected to conservative therapy, a significant improvement in the ROM of the hand and a better quality of sensation were noted in study 2. A higher level of pain, a lower reduction in the frequency of daytime tingling, and a smaller improvement in ADL capacity were noted in individuals who overused their hands at work after the therapy. Conclusions The effects of conservative CTS treatment after 1 year, expressed as the reduction of subjective symptoms, were independent of the patient’s age. A worse initial electrodiagnostic test result is a predictor of less favorable therapy results. Hand overuse during occupational activity may negatively affect the effects of conservative treatment in individuals with CTS. A change in the nature of occupational activity positively influenced the long-term maintenance of the effects of conservative treatment. Int J Occup Med Environ Health. 2019;32(2):197–215
    Źródło:
    International Journal of Occupational Medicine and Environmental Health; 2019, 32, 2; 197-215
    1232-1087
    1896-494X
    Pojawia się w:
    International Journal of Occupational Medicine and Environmental Health
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Świadomość pacjentów na temat późnych powikłań cukrzycy typu 2
    Patients’ awareness of late complications in type 2 diabetes
    Autorzy:
    Antczak-Komoterska, Anna
    Boruczkowska, Beata
    Powiązania:
    https://bibliotekanauki.pl/articles/26435320.pdf
    Data publikacji:
    2020
    Wydawca:
    Państwowa Akademia Nauk Stosowanych we Włocławku
    Tematy:
    cukrzyca
    powikłania cukrzycy
    retinopatia
    neuropatia
    nefropatia
    kardiomiopatia
    stopa cukrzycowa
    diabetes
    diabetes complications
    retinopathy
    neuropathy
    nephropathy
    cardiomyopathy
    diabetic foot
    Opis:
    Wstęp. Cukrzyca to grupa chorób metabolicznych charakteryzująca się hiperglikemią wynikającą z defektu produkcji lub działania insuliny wydzielanej przez komórki beta trzustki. Najczęstszą postacią cukrzycy jest cukrzyca typu 2, w której pierwotnie dochodzi do zmniejszonej wrażliwości tkanek na insulinę (insulino oporność). Wieloletnia cukrzyca prowadzi do wielu groźnych powikłań, które dotyczą wielu narządów, np. narządu wzroku, nerek czy włókien nerwowych. Cel. Celem pracy była ocenia świadomości pacjentów na temat późnych powikłań cukrzycy typu 2. Materiał i metody. W badaniu wzięło udział 100 pacjentów zarówno płci żeńskiej jak i męskiej leczących się w Poradni Diabetologicznej CDL Barska. Wybrano metodę sondażu diagnostycznego, zastosowano technikę ankietową i analizę dokumentacji medycznej. Narzędziem badawczym wykorzystanym w pracy był autorski kwestionariusz ankiety oraz dokumentacja medyczna. Wyniki. Z przeprowadzonych badań własnych wynika, że zdecydowaną większość pacjentów stanowią kobiety (63%), powyżej 60 roku życia (40%), mieszkające w mieście (62%), aktywne zawodowo (44%), które chorowały poniżej 5 lat (45%). Najwięcej badanych wskazywało na uczestniczenie w konsultacjach okulistycznych (65%). Największa grupa badanych wskazywała na powikłanie w postaci nadciśnienia (37,4%), zaburzenie widzenia (23,7%), najmniej wskazało na stopę cukrzycową (0,7%).
    Admission. Diabetes mellitus is a group of metabolic diseases characterized by hyperglycaemia resulting from a defect in the production or function of insulin secreted by the beta cells of the pancreas. The most common form of diabetes is type 2 diabetes, in which there is primarily a decreased sensitivity of tissues to insulin (insulin resistance). Long-term diabetes leads to many serious complications that affect many organs, such as the eyes, kidneys and nerve fibers. Aim. The aim of the study was to assess the patients' awareness of late complication of type 2 diabetes. Material and methods. The study involved 100 female and male patients treated at the CDL Barska Diabetes Clinic. The diagnostic survey method was selected, the survey technique and the analysis of medical records were used. The research tool used in the work was the original questionnaire and medical documentation. Results. The conducted research shows that the vast majority of patients are women (63%), over 60 (40%), living in the city (62%), professionally active (44%), who were ill for less than 5 years (45%). Most respondents indicated participation in ophthalmological consultations (65%). The largest group of respondents indicated a complication in the form of hypertension (37.4%), visual impairment (23.7%), and the least indicated a diabetic foot (0.7%).
    Źródło:
    Innowacje w Pielęgniarstwie i Naukach o Zdrowiu; 2020, 5, 4; 54-65
    2451-1846
    Pojawia się w:
    Innowacje w Pielęgniarstwie i Naukach o Zdrowiu
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Zapalenie pnia mózgu Bickerstaff’a – rzadki zespół chorobowy występujący u dzieci
    Bickerstaff’s Brainstem Encephalitis – a rare children’s disease syndrome
    Autorzy:
    Bocheńska, Małgorzata
    Tonia-Cwynar, Ewa
    Czyżyk, Elżbieta
    Powiązania:
    https://bibliotekanauki.pl/articles/1819308.pdf
    Data publikacji:
    2019
    Wydawca:
    Polskie Towarzystwo Neurologów Dziecięcych
    Tematy:
    zapalenie pnia mózgu Bickerstaff’a
    zespół Millera-Fishera
    zespół Guillaina-Barre’go
    przeciwciała przeciw gangliozydom
    neuropatia
    Bickerstaff brainstem encephalitis
    Miller-Fisher syndrome
    the Guillain-Barre syndrome
    anti- ganglioside antibodies
    neuropathy
    Opis:
    Zapalenie pnia mózgu Bickerstaff’a (Bickerstaff’s Brainstem Encephalitis, BBE) to rzadka, zapalna choroba układu nerwowego, dotycząca pnia mózgu i obwodowego układu nerwowego, w której dominującymi objawami są oftalmoplegia, ataksja móżdżkowa i zaburzenia świadomości. Schorzenie należy do spektrum zespołu Guillaina-Barre’go (GBS) i jest uważane za jeden z podtypów zespołu Millera-Fishera (MFS). Chociaż etiologia BBE nie jest w pełni poznana, wiąże się ją z poprzedzającym zakażeniem i uruchomieniem procesów autoimmunologicznych. Zastosowanie odpowiedniego leczenia immunomodulującego / immunosupresyjnego daje szanse na całkowite ustąpienie objawów choroby.
    Bickerstaff brainstem encephalitis (BBE) is a rare, inflammatory disease of the nervous system, including the brainstem and the peripheral nervous system, in which ophthalmoplegia, cerebellar ataxia and altered state of consciousness are the predominant symptoms. The disease belongs to the spectrum of Guillain- Barre syndrome (GBS) and is considered one of the subtypes of Miller-Fisher syndrome (MFS). Although the etiology of BBE is not fully understood, one should be aware of the progressive treatment and the initiation of autoimmune processes. The use of immunomodulatory / immunosuppressive treatment gives a chance for complete resolution of the symptoms of the disease.
    Źródło:
    Neurologia Dziecięca; 2019, 28, 56; 39-43
    1230-3690
    2451-1897
    Pojawia się w:
    Neurologia Dziecięca
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
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