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1

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

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Przygoda M., Matias D., Jurczak M., Sokołowska A., Raba K., Wołkanowski J., Rydzanicz M., Kosińska J., Płoski R., Aebisher D., Pyrkosz A.

European Journal of Clinical and Experimental Medicine

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2021

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issue 4

341-346

EN

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.

2

Neurological and neurophysiological examinations of workers exposed to arsenic levels exceeding hygiene standards

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Sińczuk-Walczak H., Janasik B. M., Trzcinka-Ochocka M., Stanisławska M., Szymczak M., Hałatek T., Walusiak-Skorupa J.

International Journal of Occupational Medicine and Environmental Health

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2014

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vol. 27

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issue 6

1013-1025

EN

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.

3

Bilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study

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Lewańska M., Grzegorzewski A., Walusiak-Skorupa J.

International Journal of Occupational Medicine and Environmental Health

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2015

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vol. 29

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issue 3

517-522

EN

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.

4

Prevalence of carpal tunnel syndrome and its correlation with pain amongst female hairdressers

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Demiryurek B. E., Aksoy Gündoğdu A.

International Journal of Occupational Medicine and Environmental Health

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2017

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vol. 31

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issue 3

333-339

EN

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

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A cross-sectional study of the upper limb non-neurogenic physical findings in computer operators and their relation to pain and neurological findings

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Jepsen K. R., Thomsen G. F., Jepsen J. R.

International Journal of Occupational Medicine and Environmental Health

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2021

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vol. 34

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issue 5

679-691

EN

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.

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Factors determining the effectiveness of conservative treatment in patients with carpal tunnel syndrome

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Zwolińska J., Kwolek A.

International Journal of Occupational Medicine and Environmental Health

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2019

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vol. 32

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issue 2

197-215

EN

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

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Fluorochinolony. Bezpieczeństwo terapii

63%

Dziedzic A., Leks-Sadowska S., Chronowska J., Madej A.

Państwo i Społeczeństwo

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2017

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issue 4

125-132

PL

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.

EN

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.

Refine search results

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

Neurological and neurophysiological examinations of workers exposed to arsenic levels exceeding hygiene standards

Bilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study

Prevalence of carpal tunnel syndrome and its correlation with pain amongst female hairdressers

A cross-sectional study of the upper limb non-neurogenic physical findings in computer operators and their relation to pain and neurological findings

Factors determining the effectiveness of conservative treatment in patients with carpal tunnel syndrome

Fluorochinolony. Bezpieczeństwo terapii