Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion.

Chronic Cough as the First Clinical Sign of Fabry Disease: A Case Report.

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, which lead to a deficiency of the alpha-galactosidase A enzyme. Pulmonary involvement is one of the possible manifestations of FD, but it is often overlooked and is rarely the only clinical presentation. Chronic cough is an uncommon and nonspecific symptom of pulmonary involvement in FD.

Colorectal Cancer: Is it Still a Disease of the Elderly?

<b><br>Introduction:</b> Colorectal cancer is becoming an increasingly significant health issue, being one of the more commonly diagnosed malignancies. Colorectal tumors account for 10% of all malignant cancers in women and 12% in men. Incidence is higher in the male population, especially among younger individuals.

COMPARING THE EFFECTIVENESS OF CONCENTRATE OF ALL PROTHROMBIN COMPLEX FACTORS WITH RECOMBINANT HUMAN COAGULATION FACTOR VIIa IN THE TREATMENT OF BLEEDING AFTER CARDIAC SURGERY.

Objective: Aim: The authors evaluated the effectiveness of treatment with recombinant human coagulation factor VIIa and concentrate of all prothrombin complex factors in patients with massive postoperative bleeding that could not be controlled with traditional therapy.

Patients And Methods: Materials and Methods: In the period from 2020 to 2021, recombinant human coagulation factor VIIa was administered to 18 patients after cardiac surgery (group I), while the concentrate of all prothrombin complex factors was administered to 16 patients postoperatively (group II). During this period, 647 patients were operated on.

Viper envenomation in Central and Southeastern Europe: a multicentre study.

Introduction: Snakebite incidence varies across Europe. However, there is limited research from Central and Southeastern Europe. These regions are notable for the presence of the common European adder () and the more venomous nose-horned viper ().

Diffuse fasciitis with eosinophilia in boys: a case-based review.

Diffuse fasciitis with eosinophilia (EF) is a rare condition classified as a part of the connective tissue disorders. The clinical presentation of this condition can be diverse, however the main symptoms include symmetrical swelling and hardening of distal parts of limbs accompanied by peripheral eosinophilia. The diagnostic criteria are not specified.

and Epstein-Barr Virus Co-Infection in Polish Patients with Gastric Cancer - A Pilot Study.

The infectious agents may be the etiological factor of up to 15-20% of cancers. In stomach cancer, attention is paid to and Epstein-Barr virus, both of which cause gastritis and can lead to tumor development. In co-infection, the inflammatory process is much more intense.

Dermoscopy of external ear melanoma (EEM).

External ear melanoma (EEM) belongs to extremely rare melanoma locations. So far, only single cases of EEM have been described in terms of dermoscopic presentations. This case study report presents dermoscopic patterns of EEM in six patients.

Embryologic and Fetal Development of the Eyelid and the Lacrimal Drainage System.

The embryological and fetal morphogenesis of the eyelids and lacrimal drainage system is multifactorial and complex. This protracted process begins in the 5th week of prenatal life and involves a successive series of subtle and tightly regulated morphogenetic events. Major milestones of the embryological and fetal development of the eyelids include the beginning of eyelid formation during the 6th week, eyelid fusion by the 8th week, and the development of eyelid structures beginning in the 9th week (immediately following eyelid fusion), with progression until eyelid separation by the 24th week.

Fetal Development of the Orbit.

Human prenatal development is divided into an embryonic period and a fetal period. Intense organogenetic activity occurs in the embryonic period of prenatal life, while the fetal period is marked by less intense changes. Knowledge of the embryology of the orbit not only allows insights into how normal variations in the orbital structure arise but also provides an understanding of how congenital deformities occur when normal orbital development goes awry.

Embryonic Development of the Orbit.

The embryonic and fetal development of the orbit comprises a series of sequential events, starting with the fertilization of the ovum and extending until birth. Most of the publications dealing with orbital morphogenesis describe the sequential development of each germinal layer, the ectoderm with its neuroectoderm derivative and the mesoderm. This approach provides a clear understanding of the mode of development of each layer but does not give the reader a general picture of the structure of the orbit within any specified time frame.

Close relationship between TAZhigh/SOX2high co-localization and metastasis in oral squamous cell carcinoma.

There is growing evidence which indicates that the development and the biological features of cancer such as the invasion, metastases and recurrence are related to the presence and behavior of the cancer stem cells (CSC). However, the regulatory mechanisms underlying CSCs-specific properties are poorly determined, the Hippo pathway has emerged as a fundamental regulator underlying CSCs stemness. Immunohistochemical method was used to examine the immunoexpression of SOX2, TAZ and α-SMA in oral squamous cells carcinomas: with metastases - OSCC M+ (n = 42), and without metastases - OSCC M- (n = 44), and 17 control cases.

A fine line between macrophage activation syndrome and multisystem inflammatory syndrome in children - literature review based on two case reports.

Multisystem inflammatory syndrome in children is a newly described condition temporarily associated with severe acute respiratory syndrome coronavirus 2. The primary observations indicated coronavirus disease 2019 infection in children to be mild. However, recent reports have revealed a correlation between multisystem inflammatory symptoms and coronavirus infection.

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.

Introduction: Recurrent miscarriage is a serious clinical problem that affects 1-5 % of all couples trying to conceive. Although the incidence of Smith-Lemli-Opitz Syndrome (SLOS, OMIM #270400), an autosomal recessive condition caused by variants in the DHCR7 gene, is very low, (1:83 000), the observed carrier frequency of DHCR7 gene variants in the Polish population is high, ranging from 1:24 to 1:31. It is possible that this carriage may be responsible for early pregnancy loss.

Nutrition Trends in Patients Over the Long Term After Kidney Transplantation.

Objectives: Nutritional behaviors may exert important influence on morbidity and graft function in patients after kidney transplantation (KT). Nutritional status is closely related to potential risk factors of developing posttransplant complications, including diabetes mellitus, weight gain, and negative effects on immunosuppressive therapy. The aim of this study was to assess the dietary intake in patients after KT.

Variation in the morphology of spinous processes in the cervical spine - An objective and parametric assessment based on CT study.

Background: Typically, cervical vertebrae display bifid spinous processes. Nevertheless, this feature may vary both between subjects and even within the vertebrae of the same individual. Although such variation can be important in archaeological research, anthropological studies and forensic medicine, it has not so far been the subject of any detailed studies.