Validation of the Polish versions of the Lower Limb Task Questionnaire, Lower Limb Functional Index, and Lower Limb Functional Index-10.

BACKGROUND: Physicians who treat patients with lower limb diseases should pay attention not only to the patients' clinical condition but also to their individual needs and expectations. For this purpose, many different questionnaires can be employed. This study aimed to validate the Lower Limb Task Questionnaire (LLTQ), Lower Limb Functional Index (LLFI), and Lower Limb Functional Index-10 (LLFI-10) for their use in Polish conditions and to perform a mutual comparison and analysis of differences in subjective assessments by patients who undergo hip or knee arthroplasty. METHODS: The LLTQ, LLFI, and LLFI-10 were translated into Polish. A total of 103 patients who qualified for hip or knee arthroplasty at a University Hospital in from 2019 to 2021 were included in this study. The patients were asked to complete the Polish versions of the LLTQ, LLFI, LLFI-10, Lower Extremity Functional Scale (LEFS), and Short Form-36 four times - twice before and twice after their surgeries. RESULTS: The Polish versions of the LLTQ, LLFI, and LLFI-10 had good psychometric properties. One year after surgery, the Cohen's standard response mean revealed high improvement of limb functionality and thus quality of life among all patients. We observed better treatment outcomes among patients who had hip osteoarthritis. CONCLUSIONS: The questionnaires were validated and can be used both in everyday health practice and in further research in Poland.

Gene expression with corresponding pathways analysis in Gaucher disease.

Gaucher disease (GD) caused by mutation in the GBA gene has a wide spectrum of phenotypes. Besides the storage disorder, secondary alteration of various pathways occurs with modification of the expression of many genes. In our work we analysed the expression profile of genes in adult patients with type 1 GD. METHODS: This study was an observational, cross-sectional analysis of a group of twenty patients with type 1 GD and ten healthy volunteers as a control group. First, on the group of ten persons, microarray gene analysis was performed. Afterwards, significantly regulated genes were selected, and the microarray results were confirmed by real-time PCR on the whole study group. RESULTS: Based on the microarray results in the pathway analysis, we focused on genes related to chemokines, inflammatory processes, endocytosis, autophagy, and apoptosis. Patients with GD demonstrated up-regulation of genes related to NFkB pathway (NFkB, NKkBR SQSTM1), inflammation (IL-1b), endocytosis and autophagy (BCN1, SMAD), genes coding proteins involved in apoptosis (CASP, NFkB, BCL2) as well as genes related to proteasome degradation (PSMD2, PSMB9) and SNARE complex (SNAP, STX). Simultaneously, we showed down-regulation of genes coding proteins of chemokines and their receptors (GNB4, CCL5). The qRT-PCR results confirmed changes in expression of selected genes. Parallel microarray results showed inhibition of genes related to neurones development and survival (NTRK1) and stimulation of gene expression related to neurodegeneration and apoptosis (BCN1, IL1B). CONCLUSIONS: The work revealed different pathway activation, especially inflammatory processes followed by autophagy and apoptosis. Our results also pay attention to new pathways leading to disorders of the functioning of the nervous tissue in patients with type 1 GD, which may lead to the development of polyneuropathy and chronic pain. These are clinical symptoms that severely decrease the quality of life in GD patients.

BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.

BACKGROUND: Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients' phenotypes, brachydactylies have been subdivided into 10 subtypes. In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5. So far only two studies have reported the BDA2 cases caused by mutations in the BMPR1B gene. METHODS: We employed next-generation sequencing to identify mutations in culpable genes. RESULTS AND CONCLUSION: In this paper, we report a case of BDA2 resulting from the presence of a heterozygous c.1456C>T, p.Arg486Trp variant in BMPR1B, which was previously associated with BDA2. The next generation sequencing analysis of the patients' family revealed that the mutation occurred de novo in the proband and was transmitted to his 26-month-old son. Although the same variant was confirmed in both patients, their phenotypes were different with more severe manifestation of the disease in the adult.

"Current place of impulse oscillometry in the assessment of pulmonary diseases."

In 1956, a diagnostic tool using the forced oscillation technique (FOT) was developed to examine respiratory functions. A modification of this method is impulse oscillometry (IOS). In the latter, a loudspeaker delivers to the respiratory system a regular, square pressure wave at a constant frequency from which all other individual frequencies are derived using spectral analysis. The usefulness of IOS has been examined in relation to COPD, asthma, interstitial lung diseases, obstructive sleep apnea, and other conditions. The greatest advantage, most notable in children, is the ability to monitor the course of a disease and to assess the response to therapy in a simple way, i.e., minimal requirements for the cooperation of the patient, rapid and reproducible measurements. The IOS shows similar or even higher sensitivity than spirometry in detecting small airways dysfunction (SAD). The most well-known result observed in peripheral airways disease (PAD) is the frequency dependence of resistance. Importantly, the abnormal resistance at a specific frequency may occur with normal spirometry in those with early PAD. Moreover, IOS is particularly useful if the patient cannot perform effort dependent exhalation. Despite its advantages, the technique is still poorly found in official worldwide recommendations. Nonetheless, considering the promising results of many studies, an increase in interest in IOS is expected, and it could soon be on par with standard pulmonary function tests. The aim of this work is to present the basics, current views, and various aspects of IOS. To carry out our analysis, we searched for relevant publications on PubMed, Web of Science. Original and review articles were selected and discussed.

The Polish version of the Boston Carpal Tunnel Questionnaire: Associations between patient-rated outcome measures and nerve conduction studies.

PURPOSE: The aim of this study was to investigate the associations between nerve conduction studies and three commonly used patient-reported outcome measures (Disabilities of the Arm, Shoulder and Hand [DASH], Michigan Hand Outcomes Questionnaire [MHQ], and the Polish version of the Boston Carpal Tunnel Questionnaire [BCTQ]) METHODS: A total of 218 consecutive patients with carpal tunnel syndrome (CTS) completed the BCTQ, MHQ, and DASH questionnaires followed by nerve conduction studies on their first visit to the clinic. RESULTS: After a 14-day interval, 189 of these patients completed the BCTQ for the second time. The Polish version of the BCTQ was shown to have excellent internal consistency, test-retest reliability, and validity. The BCTQ's construct validity revealed a strong correlation with MHQ and DASH (both R>0.7; P<0.05). Generally, compound motor action potential amplitudes correlated slightly with MHQ (R=0.22; P<0.05) and its subscales, while sensory nerve action potential conduction velocities had a low correlation with the BCTQ's symptom severity scale (R=-0.16; p<0.05). CONCLUSION: The Polish BCTQ version demonstrated good psychometric properties. It can be used both in clinical and research practice. Objective results of diagnostic procedure influenced patients' lives as measured by subjective questionnaires.

Comparison of Patient-Reported Outcome Measurements and Objective Measurements after Cubital Tunnel Decompression.

BACKGROUND: The aims of this study were (1) to compare the responsiveness of disease and hand-related issues, including health status-related questions, in patients with cubital tunnel syndrome; and (2) to assess whether these tools and objective hand tests are associated with the results of nerve conduction studies after a simple cubital tunnel syndrome decompression. METHODS: Forty-seven patients with diagnosed condition were enrolled in the study. The following tools were used preoperatively and again at 3 and 6 months: the Patient-Rated Ulnar Nerve Evaluation; the Michigan Hand Outcomes Questionnaire; the Disabilities of the Arm, Shoulder, and Hand; the 12-Item Short-Form Health Survey; the pain visual analogue scale with activity; the grip and key pinch test, two-point discrimination, and the ulnar nerve conduction studies test. RESULTS: All questionnaires and pain visual analogue scale, two-point discrimination, and nerve conduction studies improved significantly at the 6-month follow-up (p < 0.05) compared with preoperative outcomes. Correlations were observed between preoperative motor conduction velocity, preoperative work of the Michigan Hand Outcomes Questionnaire (R = -0.38; p = 0.049), and pain visual analogue scale during activity (R = 0.47; p = 0.025). A correlation was found between motor conduction velocity change after 6 months and the hand function of the Michigan Hand Outcomes Questionnaire after 6 months (R = 0.57; p = 0.017). CONCLUSION: The Patient-Rated Ulnar Nerve Evaluation and the Michigan Hand Outcomes Questionnaire were more responsive for short-term recovery compared with other measures; however, only the latter correlated with motor conduction velocity.

[Evaluation of influence of Dupuytryen contracture's operative treatment on increase of quality of hand's function basing on research in use PEM (Patient Evaluation Measure) questionnaire]. / Ocena wplywu operacyjnego leczenia przykurczu Dupuytrena na poprawe funkcji reki w oparciu o badania przeprowadzone z zastosowaniem kwestionariusza PEM (Patient Evaluation Measure).

INTRODUCTION: Dupuytren's contracture is a progressive fibrosis of facial structures of the palmar surface of the hand, gradually leading to a reduction of its functions by impaired range of motion of fingers. MATERIALS AND METHODS: Clinical material consisted of 95 patients treated surgically in the Second Department of Surgery of the Jagiellonian University in 2006 - 2011 because of Dupuytren's contracture. Based on a study using PEM questionnaire (Patient Evaluation Measure) an assessment of the quality of life before and after surgery was made. RESULTS: The average numeric value obtained in the PEM questionnaire before surgery was 30 points (SD ± 14.35). The postoperative controls were found of gradual decrease in the value and so after three months it was 22.39 points (SD ± 14.23), and after a year it reached the value of 18.12 points (SD ± 12.43). Statistically significant correlations (p < 0.001) were demonstrated between test results of PEM taken before and after 3 and 12 months after surgery. CONCLUSIONS: It has been shown that Dupuytren's contracture has negative impact on quality of life but the quality of life improves after surgical treatment.

[Evaluation of influewnce of Dupuytryen contracture's operative treatment on increase of quality of hand's function basing on research in use DASH (disability of the arm, shoulder and hand) questionnaire - own experience]. / Ocena wplywu operacyjnego leczenia przykurczu Dupuytrena na poprawe funkcji reki w oparciu o badania przeprowadzone z zastosowaniem kwestionariusza DASH (disability of the arm, shoulder and hand) - doswiadczenia wlasne.

UNLABELLED: The essence of Dupuytryen's contracture is progressive process of fibrous overgrow of the subfascial sturctures of hand volar's surface. This is the reason of impaired range of the finger movement's and subsequent limitations of their function. MATERIAL AND METHODS: The study group consist of 95 patients treated because of Dupuytryen contracture in the 2nd Chair of Surgery, Medical College of JagielIonian University between 2006-2011. The subjective evalution of increase of hand's function quality was based on DASH (Disability of the Arm, Shoulder and Hand) questionnaire. THE AIM OF THE STUDY: The aim of the study was to determinate an influence of Dupuytren contracture's operative treatment on increase of quality of hand's function using the DASH questionnaire. RESULTS: Average value in DASH before operative treatment was 40.38 points (SD+/-12.53). In postoperative evaluation gradual increase was observed: after 3 month was 33.35 points (SD+/-16.39) and after one year - 32.57 points (SD+/-14.96). Statistically important differences between DASH test's results (P<0.01) were observed. Significantly superior results was before operation, results after 3 month and 1 year were nut statistically important. CONCLUSIONS: The research with the use of DASH questionnaire revealed the influence of Dupuytren's contracture severity on subjection evaluation of hand's function.

Percutaneous ultrasound-guided drainage of the biliary tree in palliative treatment of mechanical jaundice: 17 years of experience.

INTRODUCTION: Advanced malignant tumours involving the head of the pancreas, gallbladder or extrahepatic bile ducts usually lead to the development of cholestasis. In such cases improvement of the quality of life of patients can be achieved with the decompression of jaundice. Endoscopic implantation of self-expanding or (seldom) rigid plastic stents into the biliary tree constitutes the most common technique allowing for restoration of bile duct patency. In some patients however the use of such a procedure is technically impossible. In this particular group percutaneous drainage of the biliary tree can constitute the only method of management. AIM: Presentation of our experience with the use of percutaneous ultrasound-guided drainage of the biliary tree in patients with mechanical jaundice resulting from malignant tumours. MATERIAL AND METHODS: There were 852 patients with mechanical jaundice resulting from malignant neoplasms treated in the 2(nd) Chair of Surgery of Jagiellonian University Medical College from January 1994 to December 2010. In 199 of them jaundice was decompressed by means of open - radical or palliative - surgical operations. In 539 patients endoscopic treatment was implemented while in 114 of them percutaneous ultrasound-guided drainage was performed. RESULTS: In 5 patients percutaneous drainage was introduced to prepare them for radical surgical treatment, while in the remaining 109 it constituted the definitive way of management. The average hospitalization time for women was 6.5 days (range: 1-22 days) and proved to be twice as short as in men - 12.2 days (range: 1-38 days). The duration of percutaneous drainage prior to surgical treatment averaged 7.2 days (range: 6-10 days). Mean volume of the bile drained during the first day was 370 ml (range: 10-1300 ml), increased to 450 ml (range: 100-1150 ml) during the second day and reached 780 ml (range: 80-1600 ml) during the third day. Mean bilirubin level before the drainage was 320-23 µmol/l (range: 658-130.7 µmol/l) and decreased by half before discharge or before the operation, reaching on average 181.87 µmol/l (range: 14.5-343 µmol/l). CONCLUSIONS: Complications of the percutaneous ultrasound-guided technique were found sporadically and resulted from leakage of the bile into the peritoneum.

[Concomitance of Ledderhose's disease with Dupuytren's contracture. Own experience]. / Wspólistnienie choroby Ledderhose'a z przykurczem dupuytrena. Doswiadczenia wlasne.

INTRODUCTION: Ledderhose's disease is a rare fibromatosis affecting plantar aponeurosis. Clinical picture and risk factors resemble the ones found in much more common cases of Dupuytren's disease. MATERIAL AND METHODS: The group of 101 patients with Dupuytren's disease qualified for surgical treatment constituted material for the study. Within that group incidence of Ledderhose's disease was assessed on the basis of clinical and ultrasound examination. Estimation of the presence of risk factors common for both forms of fibromatosis was also evaluated. RESULTS: Ledderhose's disease was found in 15 patients (14.85%) suffering from Dupuytren's contracture. Bilateral Ledderhose's disease was found in 10 of them. Established risk factors were similar to the ones found in Dupuytren's disease--tobacco and alcohol dominated. Indications for the surgical treatment were limited to the symptomatic cases of the disease. Two feet in 4 patients were operated on. Surgical technique was presented in broad outline. Pain relief on walking and normalization of feet pressure distribution were achieved in all cases.

[An attempt to objectify the assessment of extension or recurrence of Dupuytren's disease on the basis of ultrasound]. / Próba obiektywizacji oceny nawrotu lub wznowy choroby Dupuytrena w oparciu o badanie ultrasonograficzne.

Dupuytren's contracture is a disease of unknown etiology, leading with time to decreased hand function caused by increasing contracture of fingers. Excision of contracted longitudinal palmar fascia constitutes the most important way of treatment. Due to fact that disease has progressive course in many patients recurrence (i.e. overgrowth of longitudinal palmar aponeurosis apart from the operated site) or extension (i.e. similar process affecting formerly operated site) occurs. An attempt to objectify the assessment of recurrence or extension of Dupuytren's disease on the basis of sonographic examination of palmar surface of the hand during distant (at least 24 months from surgery) followup constituted the aim of the study. 41 patients operated on from January 2000 to February 2009 in 2nd Department of General Surgery in Krakow due to Dupuytren's contracture constituted the study material. Mean age of the patients reached 62,78 years (SD +/- 9,32), and mean follow up time 5,74 years (SD +/- 2,90). Sonographic assessment was performed in 26 operated on left hands and 24 right hands. 9 patients had both hands operated on. In most of the patients during surgery the contralateral hand was also affected by the disease. Extension of Dupuytren's disease was found in 11 hands, recurrence--in 18 hands, while concurrent extension and recurrence was found in 17 hands. Extension usually was found on the radial side and affected mainly I interphalangeal space followed by disease affecting I and III ray of the hand. In one patient 2 independent foci of the disease were found within I interphalangeal space. Recurrences affected mainly ulnar side of the hand: V and IV rays of the hand. Concurrently found extension and recurrence affected 2 or 3 rays. In the cases of 3 rays affected extension dominated (2 rays vs. 1 ray of recurrence). On sonographic assessment mean diameters of lesions during distant follow- up were 12,69 x 4,62 x 3,95 [mm] with recurrent lesions being larger than mean values found in extensions. With partial fasciectomy being the most commonly performed operation in cases of Dupuytren's disease ultrasound can constitute very important technique of assessment of exacerbation of the lesions of palmar aponeurosis allowing for the choice of appropriate surgical technique for particular case, detection of postoperative extension and/or recurrence and for the cases clinically doubtful.

[Lumbar hernia]. / Przepuklina Iedzwiowa.

Lumbar region constitutes one of the least common localizations for hernia formation. There are only slightly more than 300 cases found in English literature till the end of the 20th century, while there are only 8 cases presented in Polish literature. Exceptionally rare incidence together with diagnostic dilemma related to it made us to present cases of 2 patients operated on in the 2nd Chair of Surgery of Jagiellonian University Medical College due to lumbar hernia.

[Use of the percutaneous drainage in the treatment of patients with hepatic abscesses]. / Zastosowanie drenazu przezskórnego w leczeniu chorych z ropniami watroby.

AIM OF THE STUDY: The aim of this study was to review our results in managing liver abscess with the use of sonographically-guided percutaneous drainage. MATERIAL AND METHODS: There were 24 patients (including 12 male and 12 female patients) with liver abscesses treated from 1993 to 2009 in our department. Mean age in the male group amounted to 52 (17-70), while in the female group - 60 (46-72). The group of 22 patients (91,6%) were treated with the use of percutaneously inserted "pigtail drain". RESULTS: The group of 22 patients (11 male and 11 female patients) was treated with the use of percutaneous sonographically-guided drainage. Eschericha coli constituted the most common etiological factor isolated from the purulent content. An average drainage time amounted to 9,5 days. Percutaneous drainage proved ineffective only in 4 patients (2 male and 2 female). In 2 of those cases failure was due to recurrent obstruction of the catheter and in remaining 2--due to migration of the drain outside the abscess. 2 of those patients were treated successfully with another sonographically-guided drainage, while 2 patients required open surgical operation. CONCLUSIONS: Percutaneous sonographically-guided drainage together with antimicrobial therapy constitutes valuable method of choice in the management of liver abscess. The technique has small morbidity and complication ratio allowing avoidance of more invasive surgical interventions.

Psychologic aspects of Dupuytren's disease: a new scale of subjective well-being of patients.

INTRODUCTION: Dupuytren's disease usually appears in middle-age patients and is more prevalent in men than women (2-10 times less often than in men). Dupuytren's disease may accompany diabetes, smoking, alcoholism, HIV, and epilepsy. There is no cure for this disease. The disease causes a remarkable worsening of the quality of life resulting mainly from two factors: reduced physical performance or disability, and disfigurement. MATERIAL AND METHODS: We studied 38 patients suffering from Dupuytrens's disease. The study was done in 2007-2008 at the Second Department of Surgery of the Jagiellonian University. We used the Dupuytrens disease scale of subjective well being of patients (DDSP) questionnaire covering four areas of the quality of life. RESULTS: Blue-collar workers experienced more severe problems at work than white-collar workers. CONCLUSION: There were no differences between location of the disease in left- and right-handed patients.

[Actinomycosis in persistent urachus]. / Promienica w przetrwalym moczowniku.

A 70 -year old woman with tumor of urachus confirmed in USG and CT us described in this article. In this tumor we have found during histopathology Gram-positive Actinomyceces. The location of Actinomyces in urachus is very rare.

[A rare case of the extensive Fournier's gangrene developed in the course of a perianal abscess]. / Rzadki przypadek rozleglej martwicy Fournier'a w przebiegu ropnia okoloodbytniczego.

Fournier's gangrene is a rare necrotising fascitis of the perineum and genitals caused by mixture of aerobic and anaerobic microorganism. Despite appropriate therapy mortality in this disease is still high. We report a case of Fournier's syndrome which developed in the course of a perianal abscess. Due to the aggressive nature of this condition, early diagnosis is crucial. Treatment involves extensive soft tissue debridement and broad-spectrum antibiotic therapy. The clinical applicability of the so called Fournier's gangrene severity index score (FGSIS) was discussed.