Gastroesophageal Reflux Disease: diagnosis and treatment

Introduction and purpose of the work: The mechanism of gastroesophageal reflux disease depends on reflux of gastric contents into the esophagus as a result of reduced tone of the lower esophageal sphincter. It presents itself in the form of symptoms coming from the esophagus, e.g. heartburn, as well as from outside of it. The aim of this paper is to collect and present current knowledge on gastroesophageal reflux disease as well as diagnosis and treatment through a review of the available literature.    Brief description of the state of the art:  Gastroesophageal reflux disease affects 18.1 - 27.8% of the US population and 8.8 - 25.9% of the European population. It is defined as the presence of troublesome symptoms or complications of reflux of gastric contents into the esophagus. The etiology consists of many factors, such as improper diet, and low physical activity. The disease can manifest itself with symptoms from and outside the esophagus. Diagnosis is based primarily on the history, and in the presence of typical symptoms, therapy with proton pump inhibitors is initiated. Endoscopy and reflux measurement is used when there is no response to pharmacotherapy. The basic drugs are proton pump inhibitors, other drugs are complementary to the basic therapy. A lifestyle change is also recommended. Surgical treatment is an alternative, but it may not be a permanent solution. Other treatments include endoscopic incisionless fundoplication and radiofrequency treatment of the lower esophageal sphincter.    Summary:  Diagnosis of gastroesophageal reflux disease begins with an interview with the patient and empirical pharmacotherapy. If treatment is ineffective, endoscopy and pH measurement are performed. Proton pump inhibitors are the most effective drugs in the treatment of the disease, other drugs are used as a supplement. Surgical and endoscopic procedures are an alternative to chronic pharmacotherapy

The use of the GLP-1 analog - dulaglutide in the treatment of morbid obesity - case report

Obesity is a disease that is diagnosed in an increasing number of people around the world. Its development is influenced by many factors, both environmental and genetic. It leads to the development of further diseases, thus contributing to a reduction in life expectancy. There are many methods used to treat overweight and obesity. The most important element of the therapeutic process is a reduced diet and physical activity. However, it is often not sufficient, therefore it is becoming more and more common to introduce pharmacotherapy into treatment. One drug is dulaglutide (Trulicity), a GLP-1 analog with promising results. It was included in the treatment of a 49-year-old patient who was diagnosed with morbid obesity. The patient had been struggling with obesity since childhood, and the previously used methods of weight reduction did not bring satisfactory results. After switching to Trulicity (1.5 mg / 0.5 mL s.c.) taken once a week, it was possible to achieve a significant decrease in body weight and the well-being of the patient. If it is officially registered in the treatment of this disease in the future, there is a chance that the results of therapy will improve in many patients

TINU syndrome - literature review

Introduction Tubulointerstitial nephritis with uveitis (TINU syndrome) is a rare condition which mainly affects young females. The pathomechanism of the TINU has not been still well understood but autoimmune background is suspected. Although it was first described in 1975, less than 600 cases have been reported so far. Aim of the study The aim of the study is to present the current knowledge about the TINU syndrome. Material and methods The article was created based on the PubMed database. Articles were searched in English using the following keywords: TINU syndrome, tubulointerstitial nephritis, uveitis. Results TINU syndrome occurs in 0.1-2% of patients with uveitis with no ethnic preferences. It has been linked to a number of potential causes including infectious, genetic, and jatrogenic factors. Clinical manifestation is often atypical what leads to underdiagnosis of disease. There are currently no established specific guidelines on the basis of which a diagnosis of TINU syndrome can be made. Therapy includes topical treatment and systemic corticosteroid therapy. The overall prognosis for patients is favorable, but it is possible to develop chronic kidney disease especially in adults. Summary: TINU syndrome remains a poorly understood disease and is often not taken into account in the diagnostic process. The lack of general treatment standards means that therapy is not always effective. Further research is needed to establish guidelines for the management of this disease

Fragile X syndrome - insight into what we know and prospects

Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutation is far greater. Depending on the mutation of the FMR1 gene and levels of its products FMRP a variety of symptoms can be observed including- intellectual disability, mental retardation, lowered behavioral adaptation, autism, and dysmorphic features such as a long face with a broad forehead and prominent ears. The treatment is mostly symptomatic- managing comorbidities and an emphasis on psychological therapy. The objective of this paper is to sum up the most up-to-date knowledge regarding the pathogenesis, treatment- current and clinically tested, and novelties in the Fragile X syndrom

Fragile X syndrome - insight into what we know and prospects

Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutation is far greater. Depending on the mutation of the FMR1 gene and levels of its products FMRP a variety of symptoms can be observed including- intellectual disability, mental retardation, lowered behavioral adaptation, autism, and dysmorphic features such as a long face with a broad forehead and prominent ears. The treatment is mostly symptomatic- managing comorbidities and an emphasis on psychological therapy. The objective of this paper is to sum up the most up-to-date knowledge regarding the pathogenesis, treatment- current and clinically tested, and novelties in the Fragile X syndrom

Toksyczne uszkodzenie mózgu z dominującym zespołem pozapiramidowym i amnestycznym w następstwie zatrucia tlenkiem węgla

Tlenek węgla (CO) jest bezbarwnym, bezwonnym, pozbawionym smaku i właściwości drażniących gazem, który preferencyjnie łączy się z hemoglobiną z powinowactwem 200-230 razy silniejszym niż tlen. Powoduje uszkodzenie narządów najbardziej wrażliwych na niedotlenienie, w obrębie układu nerwowego przede wszystkim mózgowia. Zatrucie CO manifestuje się zróżnicowanym obrazem klinicznym, co przy braku ukierunkowanego wywiadu chorobowego może istotnie utrudnić ustalenie właściwego rozpoznania. Przedstawiono 66-letnią kobietę, u której w następstwie zatrucia tlenkiem węgla rozwinęła się encefalopatia z silnie wyrażonym zespołem pozapiramidowym i amnestycznym. W MRI mózgowia w obrazach T1-zależnych uwidoczniono charakterystyczne, hiperintensywne obszary, odpowiadające krwotocznej martwicy obu gałek bladych

Osilodrostat therapy in a 26-year-old patient after ineffective surgical treatment of Cushing Disease: a case report

Cushing’s Disease is caused by pituitary adenoma which produces adrenocorticotropic hormone causing hypercortisolemia. First-line treatment involves operative removal of the tumor, however, in some patients it proves ineffective. In those cases, pharmacological treatment is necessary as untreated Cushing’s Disease may be lethal. In 2020 a new steroidogenesis inhibitor – Osilodrostat - was approved by the European Medicines Agency and can be used in the treatment of patients who cannot undergo pituitary surgery or whose previous surgical treatment proved ineffective. We present a case of a 26-year-old female patient who was diagnosed with endogenous Cushing’s Disease and underwent two consecutive operations to remove the tumor - both were ineffective. With deteriorating laboratory results and other pharmacological treatments exhausted Osilodrostat therapy was introduced. Osilodrostat is becoming an important drug in patients with Cushing’s Disease refractory to other treatments

Wieloletnie przeżycie chorych z glejakiem wielopostaciowym — opisy przypadków

Glejak wielopostaciowy należy do pierwotnych nowotworów ośrodkowego układu nerwowego o bardzo dużym stopniu złośliwości. Czas przeżycia od rozpoznania u większości chorych wynosi jedynie kilkanaście miesięcy, a mediana przeżycia około 12 miesięcy. Jedynie 3–8% chorych żyje dłużej niż 3 lata. W pracy opisano przypadki młodego mężczyzny oraz kobiety z rozpoznaniem glejaka wielopostaciowego, którzy żyją odpowiednio 56 i 69 miesięcy. Na podstawie przeglądu piśmiennictwa podjęto próbę zestawienia czynników związanych z lepszym rokowaniem i dłuższym przeżyciem chorych na glejaka wielopostaciowego

Zespół drżenia i ataksji związany z łamliwym chromosomem X — opis przypadku

  Zespół drżenia i ataksji związany z łamliwym chromosomem X (FXTAS, fragile X-associated tremor/ataxia syndrome) jest rzad­kim schorzeniem neurozwyrodnieniowym występującym u osób dorosłych, związanym z mutacją genu FMR1 zlokalizowanego na chromosomie X. Autorzy przedstawili przypadek chorego , u któ­rego na podstawie obrazu klinicznego oraz badań pomocniczych rozpoznano FXTAS

Udar krwotoczny w przebiegu mózgowej angiopatii amyloidowej

Mózgowa angiopatia amyloidowa (CAA, cerebral amyloid angiopathy) jest schorzeniem zwyrodnieniowym naczyń, w którym dochodzi do uszkodzenia ściany naczyń mózgowych i ich końcowych rozgałęzień, w wyniku odkładania się w nich b-amyloidu. W CAA występują krwawienia mózgowe o typowej lokalizacji i różnej manifestacji klinicznej. Pewne rozpoznanie ustala się na podstawie badania neuropatologicznego. Istotną rolę w przyżyciowej diagnostyce CAA odgrywają także nowoczesne metody neuroobrazow