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The frequency rate of esophageal anastomosis leaks after thoracoscopic correction of esophageal atresia (EA) in the current literature is reported as 5.6%–24.7% and a conversion rate of 2%–53%. The objective of this retrospective study was to examine the characteristics of EA and analysis of the safety and efficacy of EA repair with the use of the thoracoscopic approach in a single academic center, as well as risk factors analysis in the context of short-term and mid-term follow-up status. A retrospective analysis of the management of all consecutive newborns affected by EA hospitalized in our department over a period between 2013 and 2022, including preoperative, perioperative, and postoperative management, together with the outcome, complications and long-term follow-up status was performed. A total of 38 patients with a median birth weight of 2,570 g (range; 1,020–3,880) were treated over the study period, including 30/38 (78.9%) with additional congenital anomalies. Overall, 30 patients underwent primary anastomosis of the esophagus and eight underwent a multistaged procedure, with or without an initial ligation of the tracheoesophageal fistula and delayed primary anastomosis. Overall survival for all patients was 0.894 ± 0.050, with a median follow-up of 4.5 years. We noted neither anastomotic leaks nor conversions to open technique in our cohort. Implementation of vancomycin prophylaxis was successful in preventing postoperative central venous access-related infectious complications. At the end of the follow-up, 85% of patients have a Lansky performance score ≥80. Risk factors analysis for length of hospitalization, overall survival, Lansky performance status, and neurological impairment were analyzed. In conclusion, we have found that the outcome of thoracoscopic repair of EA in terms of surgery-dependent morbidity (anastomosis leakage, conversion rate to open surgery), provides benefit to those previously reported in the literature, regardless of the prognostic criteria of the classification system.

Congenital internal mesenteric hernia is a rare cause of intestinal obstruction in the newborn. We report on a new unusual feature of combined internal transmesenteric hernia with intrahepatic location of the intestinal loop. We present also our controversial therapeutic approach based on the intention to finally resolve the problem of internal hernia in the newborn.

Patients with Nijmegen breakage syndrome (NBS) can develop life-threatening immunodeficiency, which should be treated with hematopoietic stem cell transplantation (HSCT). We report the case of a 14-year-old girl with NBS who due to an increasing number of severe complications was referred for HSCT from a matched unrelated donor. After reduced-intensity conditioning and transplantation of peripheral blood hematopoietic cells, during the early post-transplant period (days 0-30), the girl suffered from severe mucositis, fever episodes, mild acute renal injury and facial vasculitis. All these complications were managed successfully. During the intermediate post-transplant period (days 30-100) a number of hepatic and gastrointestinal complications occurred, including cholecystitis, cholelithiasis with choledocholithiasis, pancreatitis as well as acute bleeding from the lower gastrointestinal tract caused by rectal and recto-sigmoid junction ulcers. All the obstacles were obviously attributable both to the primary congenital disease, its complications, and transplantation itself. We overcame these complications and treated the patient with the best possible and safe methods. The multidisciplinary approach based on combined surgical, endoscopic and conservative management of multiple post-transplant complications was successful for the patient.

New Delhi, an enzyme belonging to the Metallo-beta-lactamases and Carbapenemases group, is most commonly found in Klebsiella pneumoniae and Escherichia coli. It determines these bacteria resistance to the majority of known antibiotics. NDM-1 was discovered in 2008 in a man treated in New Delhi for E. coli infection. Since the first appearance, 17 subtypes of this enzyme have been discovered. Its occurrence has been reported in Europe (Great Britain, France, Belgium - where even a national alert has been issued) as well as in the United States and in Africa. Most cases of New Delhi enzyme bacterial infections are reported in India or in people who have traveled to this country. There is no treatment method described so far. Therapy is based on antibiotic susceptibility test results. Colistin shows the highest effectiveness against NDM. There are also tests suggesting that Isomargololone and Nimbolide may be effective in most cases of NDM infection.

Cardiac amyloidosis is a type of amyloidosis in which one of the affected organs is the heart. The disease is characterized by the formation of protein aggregates between the cells of the organ, namely amyloid, which disables its function. The following types of amyloidosis can be distinguished: systemic senile amyloidosis (wild-type ATTR), light chain amyloidosis (AL) and hereditary transthyretin-related amyloidosis. The symptoms include, e.g., systolic dysfunction or arrhythmia. The treatment is focused on the therapy with melphalan and, additionally, stem cells transplant and chemotherapy with dexamethasone or cyclophosphamide. In the advanced stage of the disease, a heart transplant is necessary. The diagnosis is made on the basis of laboratory testing, electrocardiogram changes, and echocardiography.

Introduction: Since March 2020, the COVID-19 pandemic has been a global talking point. Access to health care has become more difficult, and such an obstacle increase the risk of inadequate medical care, especially among paediatric patients. Case: This report describes the case of a previously healthy teenager who was staying home for 2 months due to a strict lockdown period in the COVID-19 pandemic and was admitted to hospital for fever, nausea and lumbar pain. He was diagnosed consecutively with meningitis, sepsis, paraspinal abscesses and endocarditis. Further investigation did not reveal any risk factors or immunodeficiency in the patient. Discussion: Sepsis is defined as the presence of systemic inflammatory response syndrome (SIRS) associated with a probable or documented infection. It is the leading cause of death from infection, especially if not recognized and treated quickly. Sepsis may lead to various complications, such as infective endocarditis, meningitis and abscesses. Although such complications may initially be latent, they can promote internal organ dysfunction and the possibility of their presence should be considered in any patient with systemic infection. Any child with a fever should be treated as one with the possibility of developing a severe infection. Conclusion: The presented case shows that even a previously healthy child staying in long-term home isolation can develop a severe infection with multiorgan complications, and the COVID-19 pandemic should not extend the diagnostic process in patients with symptoms of infection.

Zespół Cotarda, w 1880 roku opisany przez francuskiego lekarza Jules’a Cotarda jako le délire des négations (złudzenie negacji), to choroba, w której pacjent doświadcza urojeń nihilistycznych i przeświadczenia o własnej śmierci, a następnie – nieśmiertelności. Ta niezwykle rzadka jednostka współwystępuje często z depresją, schizofrenią czy innymi chorobami charakteryzującymi się zaburzeniem identyfikacji: zespołem Capgrasa i zespołem Fregolego. Do dziś dyskutuje się, czy zespół Cotarda powinien zostać uznany za samodzielną jednostkę chorobową; ze względu na niespotykane w żadnym innym zespole objawy i zmiany w strukturach mózgu rozwiązanie to zyskuje coraz liczniejszych zwolenników. Z uwagi jednak na rzadkość występowania omawianego zespołu nie uwzględniają go ani Diagnostic and Statistical Manual of Mental Disorders (DSM-V), ani Międzynarodowa Statystyczna Klasyfikacja Chorób i Problemów Zdrowotnych (ICD-10). Obecnie leczenie ma charakter przyczynowy, czyli skupia się na terapii choroby, która najprawdopodobniej powoduje zespół Cotarda (depresja, schizofrenia, krwiak podtwardówkowy, ale również AIDS, choroba Parkinsona, hydrofobia). Wśród skutecznych substancji wymienia się leki przeciwdepresyjne i przeciwpsychotyczne. Mimo istnienia wielu podziałów najbardziej znana jest klasyfikacja Berriosa i Luque’a z 1995 roku. Badacze ci wyróżnili trzy postacie choroby: postać z depresją i halucynacjami, zespół Cotarda I(bez depresji, z zaburzeniami hipochondrycznymi) i zespół Cotarda II (z depresją).

Pierwsze informacje na temat zespołu Fregolego przedstawili w 1927 roku Courbon i Fail. Jednostka ta wchodzi w skład szerszej grupy urojeniowych zespołów błędnej identyfikacji (delusional misidentification syndromes). Cechą, która wyróżnia zespół Fregolego, jest przeświadczenie pacjenta, że znane mu osoby ciągle zmieniają wygląd, lecz zachowują dotychczasowe cechy psychologiczne. Występują również urojenia prześladowcze. Badacze klasyfikują omawiany zespół na wiele sposobów, można też znaleźć różne hipotezy na temat jego powstawania. Istnieją podstawy, by przypuszczać, że schorzenie to często rozwija się w schizofrenii paranoidalnej, przy urazach głowy i w demencji związanej z chorobą Alzheimera. Lista jednostek chorobowych, z którymi wiąże się zespół Fregolego, jest jednak dużo dłuższa. Na podstawie niewielkiej ilości danych epidemiologicznych można przypuszczać, że przedstawiane schorzenie występuje bardzo rzadko. Dostępnych jest niewiele informacji zarówno o zespole Fregolego, jak i o całej grupie urojeniowych zespołów błędnej identyfikacji. Na odróżnienie omawianego zespołu od innych jednostek należących do powyższej grupy pozwalają uwzględnienie wieku pacjenta i współwystępowanie dodatkowych chorób. Naukowcy wyróżniają dwie główne hipotezy patofizjologiczne: organiczną i psychodynamiczną. Objawy tworzą szerokie spektrum i mogą być związane z obecnością innych schorzeń. W rozpoznawaniu zespołu wykorzystuje się techniki diagnostyki obrazowej: tomografię komputerową, rezonans magnetyczny, tomografię emisyjną pojedynczych fotonów, pozytonową tomografię emisyjną, elektroencefalografię i echoencefalografię. Terapia często polega na leczeniu pierwotnej przyczyny, w wyniku której wtórnie wystąpił zespół Fregolego. Zastosowanie mają głównie neuroleptyki, ale sięga się też po inne grupy leków. Oprócz leczenia farmakologicznego stosuje się terapię elektrowstrząsową, psychoterapię i socjoterapię.

Sofosbuvir is a drug, which has been found useful in HCV (Hepatis C Virus) therapy. It replaced the previously used interferon, the applied of which has shown many side effects or lack of response to treatment. The usage of sofosbuvir with ribavirin shortens the time of treatment and minimizes the number of side effects. It is taken as a single dose of 400 mg for 12 or 24 weeks. The only place of activation of this prodrug is hepatocytes, where its active metabolite is formed (GS-461203). It should not be used together with P-glycoprotein inductors that can reduce the efficiency of its action and with amiodarone, because application of both of them together slows down the heart rate. Numerous tests have demonstrated the effectiveness of sofosbuvir in the treatment of patients who have relapsed disease after liver transplantation. A high percentage of sustained virologic response obtained in all phases of clinical trials has proven the efficacy of sofosbuvir in combination with ribavirin or another HCV drug in the therapy of hepatitis C infection.

Catatonia, otherwise known as catatonic syndrome is a frequent neuropsychiatric syndrome characterized mainly by motor disorders. There are many somatic and psychiatric dysfunctions, and the multitude of symptoms included in it make a problem in diagnosis. Moreover, until now the mechanism of pathophysiology of catatonia has not been recognized. Among the hypotheses proposed, one may find theories concerning dysregulation of neurotransmission within the dopamineergic D2 or GABA-A-ergic receptors. For years, catatonia was closely related to schizophrenia, but with the publication of the 5th edition of the Diagnostic and Statistical Manual of Psychiatric Disorders - DSM-5, these disorders were separated, creating the hope that catatonia would be considered as a separate disease entity in the future. Pharmacotherapy involves the use of benzodiazepines in the first line, which are effective in most patients. An alternative is N-methyl-D-aspartic acid (NMDA) antagonists and atypical antipsychotic drugs, the use of which is controversial due to the high risk of neuroleptic malignant syndrome, which is a direct threat to life. In the case of catatonia resistant to benzodiazepines, electroconvulsive therapy (ECT) is effective. At the same time, in order to increase the effectiveness of treatment, electroconvulsive therapy and benzodiazepines are used in parallel, which brings satisfactory results.

Crohn’s disease is one of the chronic inflammatory diseases of the digestive tract. Pathophysiology of this disease involves the genetic and environmental factors, but the most important causative factor is anti-inflammatory reaction of the organism, which eventually leads to inflammatory changes, fibrosis and necrosis. Glucocorticosteroids are commonly used in therapy and may cause many negative side effects. Nowadays, new biological medicines are being tested, which are supposed to be an alternative method of treating Crohn’s disease. Infliximab, adalimumab, certolizumab pegol, natalizumab, etanerecept, vedolizumab and ustekinumab are the examples of those drugs, on which the research was already carried out. They lead to healing of the mucous membrane of the digestive tract, and thus to remission of the disease.

Mirabegron has been registered as the first strong and selective agonist of the β3 receptor. It is currently used for relief of symptoms of overactive bladder (OAB). That onerous illness involving urgency and detrusor overactivity, that may be accompanied by incontinence, affects approx. 16% of the population. Before registration of Mirabegron, the main pharmacological and non-surgical therapeutic method was the treatment with anti-muscarinic drugs, associated with burdensome adverse effects. Clinical trials on over 10,000 participants demonstrated efficacy and safety of Mirabegron. Besides monotherapy, attempts are being made to use Mirabegron in combined therapy of OAB. The innovative mechanism of action of the drug makes it an attractive option not only in treatment of conditions of the urinary system, but also of metabolic disorders and diseases of the cardiovascular system. This article provides a review of the current knowledge and recent reports regarding Mirabegron - an alternative in treatment of the common and onerous disease of overactive bladder.

Carbamazepine is an antiepileptic drug which exhibits a number of side effects, namely including a headache, abdominal pain, increased blood pressure, but also hematologic disorders. Thrombocytopenia, hypogammaglobulinemia, leukopenia, neutropenia, agranulocytosis, aplastic anemia, pure red cell aplasia, leukemia or eosinophilia with DRESS syndrome belong to the latter. There is a low incidence of carbamazepine pharmacotherapy related symptoms and their exact mechanisms of action are still unknown.