Delay in Diagnosis and Treatment of Primary Bone Tumors.

BACKGROUND: Delay in the diagnosis and treatment of bone tumors continues to be a common problem. Prolonged diagnosis can significantly reduce the chances of successful treatment of the disease. Accordingly, the aim of this study was to assess the delay in the diagnosis of primary bone tumors, identify the most common symptoms and analyze the course of the diagnostic and therapeutic path. MATERIAL AND METHODS: Thirty-two (K=18; M=14) patients treated surgically for primary bone tumors were included in the retrospective study. Patient records were analyzed. Delay in diagnosis was defined as the time from the onset of symptoms to the initial diagnosis and referral to an orthopedic oncology center. RESULTS: The median delay in diagnosis was 7 (3-12) months. For tumors located in the pelvis, the delay was 10 months, compared to 5 months for the upper limb and 7 months for the lower limb (p=0.2312). The delay was 6 months In patients with osteosarcoma, and 8 months in chondrosarcoma patients (p=0.1786). At the first office visit, an x-ray was ordered in 19 cases (59.4%), of whom 9 patients (47.4%) were referred on to the oncology center. The most common symptoms were pain in the affected area (90.6%), limited mobility (28.1%) and pathological fracture (25%). After admission to an orthopedic department, a biopsy was performed after 5.5 (3-8.2) days. The histology results were ready after another 14 (8-18) days, and surgical treatment was performed after 95 (76-100) days. CONCLUSIONS: 1. Although patients show typical symptoms of bone tumors, only a small proportion are referred directly to an oncology center. After a primary bone tumor is suspected, further diagnostic and therapeutic activities proceed efficiently, in accordance with the current guidelines.

The Effect of Calcineurin Inhibitors on MMPs Activity in Heart and Their Side Effects-A Review of Literature.

This review focuses on the role of metalloproteinases in the pathogenesis of myocardial injury in various disease entities. It reveals how the expression and serum levels of metalloproteinases and their inhibitors change in many disease states. At the same time, the study offers a review of the impact of immunosuppressive treatment on this relationship. Modern immunosuppressive treatment is based mainly on the use of calcineurin inhibitors, including cyclosporine A and tacrolimus. The use of these drugs may carry a number of side effects, specifically to the cardiovascular system. The scale and degree of long-term influence on the organism remains unclear, but a significant risk of complications for transplant recipients who take immunosuppressive drugs as part of their daily treatment is to be expected. Therefore, the knowledge on this subject should be expanded and the negative effects of post-transplant therapy minimized. Immunosuppressive therapy plays an important role in the expression and activation of tissue metalloproteinases and their specific inhibitors, which leads to many tissue changes. The presented study is a collection of research results on the effects of calcineurin inhibitors on the heart, with particular emphasis placed on the participation of MMP-2 and MMP-9. It is also an analysis of the effects of specific heart diseases on myocardial remodeling through inductive or inhibitory effects on matrix metalloproteinases and their inhibitors.

Vitamin D Status in Patients before Thyroidectomy.

Thyroid neoplasms (tumors) are the most common pathology of the endocrine system that requires surgery, and in most cases changes are benign. The surgical treatment of thyroid neoplasms consists in total, subtotal, or one lobe excision. Our study aimed to assess the concentration of vitamin D and its metabolites in patients before thyroidectomy. The study included 167 patients with thyroid pathology. Before the thyroidectomy procedure calcidiol (25-OHD), calcitriol (1,25-(OH)2D), and vitamin D binding protein (VDBP), as well as basic biochemical parameters, were measured using an enzyme-linked immunosorbent assay kit. Data analysis showed that the cohort of patients has a significant 25-OHD deficiency and proper concentration of 1,25-(OH)2D. Before the surgery, more than 80% of patients have extreme vitamin D deficiency (<10 ng/mL), and only 4% of the study group has proper 25-OHD concentration. Patients undergoing thyroidectomy are exposed to many complications, including calcium reduction. Our research has shown that patients prior to surgery have a marked vitamin D deficiency, an indicator that may affect their subsequent convalescence and prognosis. The results suggest that determination of vitamin D levels prior to thyroidectomy may be useful for potential consideration of supplementation when vitamin D deficiency is marked and needs to be incorporated into the good clinical management of these patients.

Simultaneous unilateral laparoscopic adrenalectomy for pheochromocytoma and thyroidectomy in MEN 2A and MEN 2B syndrome.

Not required for Clinical Vignette.

Permeability of Ibuprofen in the Form of Free Acid and Salts of L-Valine Alkyl Esters from a Hydrogel Formulation through Strat-M™ Membrane and Human Skin.

This paper aimed to evaluate the effect of vehicle and chemical modifications of the structure of active compounds on the skin permeation and accumulation of ibuprofen [IBU]. In vitro permeation experiments were performed using human abdominal skin and Strat-M™ membrane. The HPLC method was used for quantitative determinations. The formulations tested were hydrogels containing IBU and its derivatives and commercial gel with ibuprofen. The results obtained indicate that Celugel® had an enhancing effect on the skin penetration of IBU. The average cumulative mass of [IBU] after 24 h permeation test from Celugel® formulation through human skin was over 3 times higher than for the commercial product. Three ibuprofen derivatives containing [ValOiPr][IBU], [ValOPr][IBU], and [ValOBu][IBU] cation were evaluated as chemical penetration enhancers. The cumulative mass after 24 h of penetration was 790.526 ± 41.426, 682.201 ± 29.910, and 684.538 ± 5.599 µg IBU cm-2, respectively, compared to the formulation containing unmodified IBU-429.672 ± 60.151 µg IBU cm-2. This study demonstrates the perspective of the transdermal hydrogel vehicle in conjunction with the modification of the drug as a potential faster drug delivery system.

Assessment of the Effect of Structural Modification of Ibuprofen on the Penetration of Ibuprofen from Pentravan® (Semisolid) Formulation Using Human Skin and a Transdermal Diffusion Test Model.

The effect of transdermal vehicle (Pentravan®) on skin permeability was examined for unmodified ibuprofen (IBU) and ion pairs of ibuprofen with new L-valine alkyl esters [ValOR][IBU]. The percutaneous permeation across the human skin and transdermal diffusion test model (Strat-M® membranes) of ibuprofen and its structural modification were measured and compared using Franz diffusion cells. For comparison, the penetration of ibuprofen from a commercial product was also investigated. The cumulative amount of drug permeated through human skin at the end of the 24 h study was highest for ibuprofen derivatives containing propyl (C3), isopropyl (C3), ethyl (C2), and butyl (C4) esters. For Strat-M®, the best results were obtained with the alkyl chain length of the ester from C2 to C5. The permeation profiles and parameters were appointed, such as steady-state flux, lag time, and permeability coefficient. It has been shown that L-valine alkyl ester ibuprofenates, with the propyl, butyl, and amyl chain, exhibit a higher permeation rate than ibuprofen. The diffusion parameters of analyzed drugs through human skin and Strat-M® were similar and with good correlation. The resulting Pentravan-based creams with ibuprofen in the form of an ionic pair represent a potential alternative to other forms of the drug-containing analgesics administered transdermally. Furthermore, the Strat-M® membranes can be used to assess the permeation of transdermal preparations containing anti-inflammatory drugs.

Microbiome Metabolites and Thyroid Dysfunction.

Thyroid diseases are common conditions that have a negative impact on the health of all populations. The literature sheds light on the differences in the composition of the intestinal microbiota in patients suffering from thyroid diseases compared to healthy individuals. The microbiome affects the proper functioning of the thyroid gland, and the existence of the gut-thyroid axis is discussed in the context of both thyroid diseases and intestinal dysbiosis. The purpose of this review is to describe associations between the microbiome and its metabolites and thyroid dysfunction. We try to explain the role of the microbiome in the metabolism of thyroid hormones and the impact of thyroid autoimmune diseases. In addition, we raise issues related to the influence of bacterial metabolites, such as short-chain fatty acids or secondary bile acids, in the functioning of the thyroid gland. Last but not least, we explored the interactions between the gut microbiota and therapeutics and supplements typically administered to patients with thyroid diseases.

The Role of Resolvins, Protectins and Marensins in Non-Alcoholic Fatty Liver Disease (NAFLD).

Increased triacylglycerols' (TAG) synthesis, insulin resistance, and prolonged liver lipid storage might lead to the development of non-alcoholic fatty liver disease (NAFLD). Global prevalence of NAFLD has been estimated to be around 25%, with gradual elevation of this ratio along with the increased content of adipose tissue in a body. The initial stages of NAFLD may be reversible, but the exposition to pathological factors should be limited. As dietary factors greatly influence various disease development, scientists try to find dietary components, helping to alleviate the steatosis. These components include n-3 polyunsaturated (PUFA) fatty acids, especially eicosapentaenoic acid (EPA) and docosahexaenoic acids (DHA). This review focused on the role of resolvins, protectins and merensins in NAFLD.

Epilobium angustifolium L. Extracts as Valuable Ingredients in Cosmetic and Dermatological Products.

Epilobium angustifolium L. is a popular and well-known medicinal plant. In this study, an attempt to evaluate the possibility of using this plant in preparations for the care and treatment of skin diseases was made. The antioxidant, antiaging and anti-inflammatory properties of ethanolic extracts from Epilobium angustifolium (FEE) were assessed. Qualitative and quantitative evaluation of extracts chemically composition was performed by gas chromatography with mass spectrometry (GC-MS) and high-performance liquid chromatography (HPLC). The total polyphenol content (TPC) of biologically active compounds, such as the total content of polyphenols (TPC), flavonoids (TFC), and assimilation pigments, as well as selected phenolic acids, was assessed. FEE was evaluated for their anti-inflammatory and antiaging properties, achieving 68% inhibition of lipoxygenase activity, 60% of collagenase and 49% of elastase. FEE also showed high antioxidant activity, reaching to 87% of free radical scavenging using 2,2-diphenyl-1-picrylhydrazyl (DPPH) and 59% using 2,2'-azinobis(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS). Additionally, in vitro penetration studies were performed using two vehicles, i.e., a hydrogel and an emulsion containing FEE. These studies showed that the active ingredients contained in FEE penetrate through human skin and accumulate in it. The obtained results indicate that E. angustifolium may be an interesting plant material to be applied as a component of cosmetic and dermatological preparations with antiaging and anti-inflammatory properties.

Global Gene Expression of Cultured Human Dermal Fibroblasts: Focus on Cell Cycle and Proliferation Status in Improving the Condition of Face Skin.

Chronological skin ageing is an inevitable physiological process that results in thin and sagging skin, fine wrinkles, and gradual dermal atrophy. The main therapeutic approaches to soft tissue augmentation involve using dermal fillers, where natural fillers, such as autologous fibroblasts, are involved in generating dermal matrix proteins. The aim of this study was to determine the global transcriptome profile of three passages of dermal autologous fibroblasts from a male volunteer, focusing on the processes of the cell cycle and cell proliferation status to estimate the optimal passage of the tested cells with respect to their reimplantation. We performed K-means clustering and validation of the expression of the selected mRNA by qRT-PCR. Ten genes were selected (ANLN, BUB1, CDC20, CCNA2, DLGAP5, MKI67, PLK1, PRC1, SPAG5, and TPX2) from the top five processes annotated to cluster 5. Detailed microarray analysis of the fibroblast genes indicated that the cell population of the third passage exhibited the highest number of upregulated genes involved in the cell cycle and cell proliferation. In all cases, the results of qRT-PCR confirmed the differences in expression of the selected mRNAs between fibroblasts from the primary culture (C0) and from the first (C1), second (C2), and third (C3) cell passage. Our results thus suggest that these cells might be useful for increasing fibroblast numbers after reimplantation into a recipient's skin, and the method used in this study seems to be an excellent tool for autologous transplantation allowing the rejuvenation of aging skin.

Thermography in the diagnosis of carpal tunnel syndrome.

INTRODUCTION: Carpal tunnel syndrome (CTS) is a condition caused by chronic compression of the median nerve. The diagnosis is made mainly on the basis of clinical image and confirmed with electrodiagnostic testing (electromyography and nerve conduction study); however, these methods do not always aid in reaching the diagnosis of CTS. Moreover, they are invasive examinations, unpleasant for the patient and have to be performed by a qualified physician. AIM: An evaluation of the usefulness of dynamic thermography in the diagnosis of CTS. MATERIAL AND METHODS: Forty patients were included in the study group. CTS was diagnosed based on clinical examination and electromyography. Forty healthy volunteers were included in the control group. Each of the participants was examined thrice with dynamic thermography. The patient's hands were first cooled down and then a thermal camera measured their return to normal temperature. The measurement was repeated on the dorsal and volar aspects of each hand. RESULTS: The results obtained in the study show that a relief of symptoms after carpal tunnel release does not correlate with thermal image. Moreover, the return to normal hand temperature was faster in the control group. In patients with unilateral CTS, no difference was observed in thermographic images of the affected and healthy hands. CONCLUSIONS: Dynamic thermography can be useful in confirming CTS diagnosis.Dynamic thermography does not allow for objective assessment of patient's complaints in the postoperative period.This method has currently limited clinical application. Due to complexity, it presently serves mainly scientific purposes.

In Vitro Human Skin Penetration, Antioxidant and Antimicrobial Activity of Ethanol-Water Extract of Fireweed (Epilobium angustifolium L.).

Epilobium angustifolium L. is applied as an antiseptic agent in the treatment of skin diseases. However, there is a lack of information on human skin penetration of active ingredients with antioxidative potential. It seems crucial because bacterial infections of skin and subcutaneous tissue are common and partly depend on oxidative stress. Therefore, we evaluated in vitro human skin penetration of fireweed ethanol-water extracts (FEEs) by determining antioxidant activity of these extracts before and after penetration study using 2,2-diphenyl-1-picrylhydrazyl (DPPH), 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS), and Folin-Ciocalteu methods. Microbiological tests of extracts were done. The qualitative and quantitative evaluation was performed using gas chromatography-mass spectrometry (GC-MS) and high-performance liquid chromatography (HPLC-UV) methods. The in vitro human skin penetration using the Franz diffusion chamber was assessed. The high antioxidant activity of FEEs was found. Gallic acid (GA), chlorogenic acid (ChA), 3,4-dihydroxybenzoic acid (3,4-DHB), 4-hydroxybenzoic acid (4-HB), and caffeic acid (CA) were identified in the extracts. The antibacterial activities were found against Serratia lutea, S. marcescens, Bacillus subtilis, B. pseudomycoides, and B. thuringiensis and next Enterococcus faecalis, E. faecium, Streptococcus pneumoniae, Pseudomonas aeruginosa, and P. fluorescens strains. In vitro penetration studies showed the penetration of some phenolic acids and their accumulation in the skin. Our results confirm the importance of skin penetration studies to guarantee the efficacy of formulations containing E. angustifolium extracts.

Electromyography as an intraoperative test to assess the quality of nerve anastomosis - experimental study on rats.

BACKGROUND: Many factors contribute to successful nerve reconstruction. The correct technique of anastomosis is one of the key elements that determine the final result of a surgery. The aim of this study is to examine how useful an electromyography (EMG) can be as an objective intraoperative anastomosis assessment method. METHODS: The study material included 12 rats. Before the surgery, the function of the sciatic nerve was tested using hind paw prints. Then, both nerves were cut. The left nerve was sutured side-to-side, and the right nerve was sutured end-to-end. Intraoperative electromyography was performed. After 4 weeks, the rats were reassessed using the hind paw print analysis and electromyography. RESULTS: An analysis of left and right hind paw prints did not reveal any significant differences between the length of the steps, the spread of the digits in the paws, or the deviation of a paw. The width of the steps also did not change.Electromyography revealed that immediately after a nerve anastomosis (as well as 4 weeks after the surgery), better nerve conduction was observed through an end-to-end anastomosis. Four weeks after the surgery, better nerve conduction was seen distally to the end-to-end anastomosis. CONCLUSIONS: The results indicate that in acute nerve injuries intraoperative electromyography may be useful to obtain unbiased information on whether the nerve anastomosis has been performed correctly - for example, in limb replantation.When assessing a nerve during a procedure, EMG should be first performed distally to the anastomosis (the part of the nerve leading to muscle fibers) and then proximally to the anastomosis (the proximal part of the nerve). Similar EMG results can be interpreted as a correct nerve anastomosis.The function of the distal part of the nerve and the muscle remains intact if the neuromuscular transmission is sustained.

The Role of Resolvins: EPA and DHA Derivatives Can Be Useful in the Prevention and Treatment of Ischemic Stroke.

INTRODUCTION: Most ischemic strokes develop as a result of atherosclerosis, in which inflammation plays a key role. The synthesis cascade of proinflammatory mediators participates in the process induced in the vascular endothelium and platelets. Resolvins are anti-inflammatory mediators originating from eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), which may improve the prognosis related to atherosclerosis by inhibiting the production of proinflammatory cytokines, limiting neutrophil migration, or positively influencing phagocytosis. Although clinical trials with resolvin in humans after stroke have not been realized, they may soon find application. AIM: The aim of the study was to review the available literature on the scope of the possibilities of the prevention and treatment of stroke with the use of resolvins, EPA and DHA derivatives. MATERIALS AND METHODS: The review features articles published until 31 January 2020. The search for adequate literature was conducted using the keywords: stroke and resolvins. Over 150 articles were found. Studies not written in English, letters to the editor, conference abstracts, and duplicate information were excluded. RESULTS: In several studies using the animal model, the supplementation of resolvin D2 decreased brain damage caused by myocardial infarction, and it reversed the neurological dysfunction of the brain. A decrease in the concentration of proinflammatory cytokines, such as TNF-α, Il-6, and Il-1ß, was also observed, as well as a decrease in the scope of brain damage. In the context of stroke in animals, the treatment with resolvin D2 (RvD2) (injection) has a better effect than supplementation with DHA. CONCLUSIONS: Resolvins are characterised by strong anti-inflammatory properties. Resolvins improve prognosis and decrease the risk of developing cardiovascular disease, consequently lowering the risk of stroke, and may find application in the treatment of stroke.

Skin incision versus laser - the influence of different techniques on scar formation and lymphatic drainage in rats. A preliminary report.

INTRODUCTION: The constantly rising number of skin malignancies and increasing cancer awareness encourage more people to visit outpatient clinics in order to have various skin lesions removed. Despite the fact that scarring is a physiological response to any excision procedure, minimizing the size of it is a goal of every good practitioner. Therefore the question arises whether different techniques used to remove skin lesions may impact the formation and quality of skin scars. AIM: To perform an evaluation of skin scars formed by laser and surgical incisions and their influence on lymphatic outflow in rats. MATERIAL AND METHODS: Five male rats were used. Using methylene blue, the migration of dye through lymphatic channels of the lower extremity was measured. Afterwards, transverse incisions were made distally using laser and a surgical blade. Wounds were left to heal by secondary intention. After 4 weeks dye migration assessment was repeated and tissue samples were obtained for microscopic evaluation. RESULTS: Wounds after surgical incisions healed entirely. Wounds after laser treatment had not healed, with a visible area of granulation tissue and hair loss. Significantly worse dye migration was observed in rat extremities after laser therapy than after surgical incision (p = 0.007). CONCLUSIONS: The results of the study show that the size of the scar can depend on the incision technique used. Larger scars after laser therapy limit the lymphatic flow of the skin, which may have an adverse effect on mapping sentinel lymph nodes. However, this hypothesis requires further research.

Bone Healing in the Presence of a Biodegradable PBS-DLA Copolyester and Its Composite Containing Hydroxyapatite.

The healing process of the fractured bone in a presence of poly(butylene succinate-butylene dilinoleate) (PBS-DLA) copolymer containing nanosized hydroxyapatite (HAP) particles has been investigated. The PBS-DLA material containing PBS hard segments and DLA soft segments (50:50 wt %) was used to prepare a polymer/ceramic composite with 30 wt % HAP. A new PBS-DLA copolymer showed a high elasticity of 500% and 15 MPa tensile strength. Addition of HAP improved tensile strength up to 25 MPa while high elasticity has been preserved going down only to 300% of elongation at break. A polymer nanocomposite was fabricated into small elastic polymer rods 15 mm long and 1 × 2 mm in cross section and used for tibia bone fixation in rats. Mallory trichrome staining indicated that new biodegradable copolymers and its composite containing HAP have triggered the most advanced bone healing of all tested materials, thus indicating their high potential for bone tissue engineering and repair.

The use of thermography to design tissue flaps - experimental studies on animals.

INTRODUCTION: Methods allowing one to locate the position of a cutaneous perforator do not allow one to determine the boundaries of the vascularized skin. In clinical practice this causes complications in the form of marginal necrosis of the flap. AIM: To examine the usefulness of thermography to assess the extent of vascularization of the skin and subcutaneous tissue by a single perforator. MATERIAL AND METHODS: Thirty-one male rats were used. Using dynamic thermography the perforators on the abdominal skin were located. Afterwards the flap was prepared on a randomly chosen perforator. After 24 h the extent of vascularization of the skin by a single perforator was examined. RESULTS: In 22.5% of cases the number of perforators marked in the thermography was equal to the number of perforators marked intraoperatively, in 64.5% it was lower and in 13% higher. The use of thermography has shown that basing the flap vascularization on the perforator with low efficiency resulted in statistically more frequent occurrence of ischemia and partial necrosis of the flap (p = 0.024). Partial necrosis of the flap occurred in 12 of 31 cases, always in the area in which during the preoperative thermography no perforators were found. The areas of necrosis occurred irrespectively of the distance from the supplying vessel. CONCLUSIONS: When designing the shape of the flap, the distribution of all perforators must be considered. The perforators need to be included in the area of prepared tissues because their location indicates the area with a more efficient network of vessels.

The use of thermography in early detection of tissue perfusion disorders in rats.

INTRODUCTION: Tissue perfusion disorders can be present in various diseases and progress in the form of arterial ischemia or venous stasis with accompanying local changes in temperature. AIM: To use of thermography in the diagnostics of early periods of tissue perfusion disorders before the clinical symptoms occur. MATERIAL AND METHODS: Thirty-two male rats were used. After anesthesia the skin on lower limbs was shaved and femoral vessels of both sides were exposed. In 10 rats the left femoral artery was ligated, in 12 rats the left femoral vein was ligated and in the 10 remaining rats both left femoral vessels were ligated. Thermography of the limbs was performed before the vessels were ligated and after a period of 24 h. The pictures were taken every 5 s during 3 min. Before the measurement, the tissues were cooled down for 20 s with a 5°C water compress. The rate of temperature return to the limbs was evaluated. RESULTS: Statistically significant differences were observed after the 24-hour period on the thigh after the ligation of the vein, and on the shank and the foot after ligation of the artery. After the ligature of both vessels, statistically significant differences occurred immediately after their ligature within the thigh and shank and after 24 h on the foot. CONCLUSIONS: The results show that cameras with an accuracy of 0.05°C can be used to detect tissue perfusion disorders. The special diagnostic value is the ability to detect perfusion disorders before clinical symptoms occur.

Clinical analysis of selected complement-derived molecules in human adipose tissue.

BACKGROUND: It has been suggested that action of complement cascade [CC]-derived anaphylatoxins/molecules may represent a missing link between obesity and metabolic disorders. However, to date, the direct biochemical/immunomodulatory composition of the human AT environment remains poorly understood. In this study, we examined plasma and AT (subcutaneous and visceral/omental) levels of selected CC-derived anaphylatoxins/molecules, and adipsin as well as verified their associations with immune and stem cells chemoattractant - stromal-derived factor-1 (SDF-1). METHODS: A total of 70 (35 subcutaneous and 35 omental) AT samples were obtained from patients undergoing elective surgery. Plasma and AT-derived interstitial fluid levels of C3a, C5a, C5b-9/membrane attack complex (MAC), complement factor D (adipsin) were measured using ELISA. RESULTS: AT levels of all examined substances were significantly lower than the corresponding levels in the plasma (in all cases P < 0.0000001). Moreover, in subcutaneous AT, robust C3a and adipsin concentrations were observed, whereas high levels of C5b-9/MAC were detected in the visceral depots. In addition, we established the correlations between analyzed molecular substances and body composition, BMI and/or the adiposity index of the examined patients. CONCLUSIONS: Our study demonstrated for the first time that significantly reduced levels of complement-derived molecules were present in human AT than in the peripheral blood, and that these factors are associated with the metabolic status of examined individuals. Moreover, in human AT, various associations between complement-derived molecules and SDF-1 levels exist.

[The "heart-hand" syndrome in a 8-year-old-boy with short stature]. / Zespól "serce-reka" u 8-letniego chlopca z niskorosloscia.

"Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It is characterized by upper limb defects (carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray) and cardiac septal defects (atrial septal defects or ventricular septal defects). There are three main types of "heart-hand" syndromes. "Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (Tabatznik syndrome) by short distal phalanx of the thumb, upper limb abnormalities and cardiac arrhythmias, type III by cardiac conduction diseases and shortening of the middle phalanges. The aim of this report is to present a new case of the "heart-hand" syndrome in the family. This diagnosis was established on the base of clinical examination, radiological findings, and echocardiography. Our patient demonstrates congenital bilateral absence of a radial bone and thumbs, dextrocardia and patent foramen ovale.