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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., In this study, we have identified a family with two members affected by brachydactyly type A2 caused by BMPR1B mutation.

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 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.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 R0.7; P0.05). Generally, compound motor action potential amplitudes correlated slightly with MHQ (R=0.22; P0.05) and its subscales, while sensory nerve action potential conduction velocities had a low correlation with the BCTQ's symptom severity scale (R=-0.16; p0.05).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.

Aim. The aim of this study was to analyze the results of surgical treatment of balanced AVSD during 10-year period in a single center. The adequacy of atrioventricular valves reconstruction was scrutinized as well as risk factors for mortality, redo surgery, pulmonary hypertension incidence were assessed.Materials and method. One hundred twenty one patients underwent surgical correction of AVSD between 2004 and 2013. All patients were operated by double patch technique with the apposition zone closure. Patients’ median age was: 109 (86–151) days, body weight: 4.5 (4–5.5) kg. Down syndrome was present in 100 (82.6%) patients. Results. Early mortality equaled 17.3% (21 patients) and late mortality was 1.7% (2 patients). Pulmonary hypertension (42.9%) and heart failure (33.3%) were the main causes. Cardiopulmonary bypass time (p

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 2nd 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.

The article presents two patients who underwent laparoscopic splenectomy because of splenic sarcoidosis. In one patient sarcoidosis was diagnosed based on the chest X-ray and computed tomography (CT) scans. Further imaging allowed for the diagnosis of systemic spread of the disease with bone marrow and splenic involvement. The latter location was confirmed by pathological examination after the operation. The indication for splenectomy was hypersplenism with concurrent thrombocytopenia. In the second patient, an abdominal ultrasound scan (US) showed suspicious focal lesions in the spleen. Histological examination proved it to be a rare isolated splenic form of sarcoidosis.

The aim the study was the evaluation of the treatment results of the internal ultrasound and gastroscopy-guided pancreatic pseudocysts. Material and methods. From 1994-2008 at the 2nd Department of General Surgery UJ CM there were 126 patients (incl. 45 female and 81 male) treated for pancreatic pseudocyst. Mean age of the women was 41.05 years (25-81) while men 48 years (19-79). Ultrasound and gastroscopy-guided drainage by the means of insertion of double pig tail drain was attempted in 46 patients(17 female and 29 male). Mean diameter of the cyst was 11.02 cm (from 2.5-20 cm). Results. Out of 46 patients assigned to the internal ultrasound, gastroscopy guided drainage, the procedure was technically feasible in 39. Internal marsupialization was successful in 24 patients (52.17%). We did not observe serious complications mentioned in the literature incl. iatrogenic injuries of the intraabdominal organs or fi stulas. Drain was removed after 5 month (1-9 month). Conclusions. Endoscopic drainage consists an interesting minimally invasive approach in the management of pancreatic pseudocyst. More precise inclusion criteria could increase its effi cacy.