Koštana pregradnja pomoću osteoklasta: što smo naučili iz ispitivanja knockout gena?

Osteopetroses are disorders of bone remodeling resulting in increased bone mass. Osteopetrosis abnormalities can include changes in osteoclast lineage, bone marrow microenvironment, or both. Little is known about the mechanisms that regulate the activity of different bone cell types. Various agents act on bone in a complicated web of interactions, with either synergistic or diverse effects. Advances in molecular biology have enabled studies in knockout or transgenic animals, providing an insight into the mechanism of bone remodeling.Osteopetroze su poremećaji pregradnje kostiju koji dovode do povećanja koštane mase. Osteopetrotične abnormalnosti mogu obuhvaćati promjene u staničnoj liniji osteoklasta, u mikrookolišu koštane srži ili oboje. Malo se zna o mehanizmima koji reguliraju aktivnost različitih vrsta koštanih stanica. Različiti čimbenici utječu na kost kroz čitav splet međusobnih aktivnosti sa sinergističnim ili raznovrsnim učincima. Napredak u molekularnoj biologiji omogućio je ispitivanja na knockout ili transgenskim životinjama, pružajući uvid u mehanizme koštane pregradnje

Diagnostic Delays for Non-melanoma Skin Cancers in Renal Transplant Recipients during the COVID-19 Pandemic: What is Hiding Behind the Mask?

The ongoing pandemic of coronavirus disease 2019 (COVID-19) was declared by the World Health Organization on March 11, 2020, and remains a global challenge. COVID-19 is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), transmitted primarily through respiratory droplets and aerosols. Even though the COVID-19 vaccine has become available since December 2020, the main preventive measures still include social distancing, hand washing, and the use of protective face masks

Bubreg u Anderson-Fabrijevoj bolesti

Anderson-Fabry disease is an X-linked recessive glycolipid storage disease caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Numerous mutations are responsible for development of the disease. Clinical manifestations include acroparesthesia from childhood, corneal dystrophy, angiokeratomas, hypohidrosis, hearing loss and, with aging, development of cardiovascular and renal disease. Renal failure typically begins in the third decade of life. A young male patient presents with proteinuria and impaired urinary concentrating ability, or reaches end-stage renal disease of unknown origin without prior supervision of nephrologist. Polyuria and nicturia are the first signs of disease caused by urinary concentration defect. Proteinuria begins in the second decade of life, and is usually below the nephrotic level. Urinalysis is characterized by hematuria and lipiduria. Urinary sediment contains lipid globules and characteristic .Maltese crosses.. Enzyme replacement therapy has recently become available. Two formulations of alpha-galactosidase A have received marketing authorization. It seems possible to halt and probably even reverse the progression of Fabry disease before the irreversible organ damage has set in. Clinical trials have proved the efficacy and safety of treatment with agalsidase alpha or beta. Besides its beneficial effect on renal function, enzyme replacement therapy improves cardiac parameters and quality of life in patients with Anderson-Fabry disease. The main disadvantage of enzyme replacement therapy is the very high cost of treatment, posing a challenge even to the most industrialized countries in the world.Anderson-Fabrijeva bolest se nasljeđuje recesivno putem X kromosoma. Nedostatna aktivnost lizosomskog enzima a-galaktozidaze A uzrokuje nakupljanje glikolipida u različitim tkivima i organima. Dosad su prepoznate brojne mutacije odgovorne za razvoj bolesti. Kliničke manifestacije uključuju akroparestezije od djetinjstva, distrofiju mrežnice, angiokeratome, hipohidrozu, slabljenje sluha, te razvoj kardiovaskularne i bubrežne insuficijencije. Zatajenje bubrega započinje u trećem desetljeću života. Obično mladi muškarac dolazi s proteinurijom i poremećenom sposobnošću koncentriranja mokraće ili nastupa završno zatajenje bubrega bez prethodnog nadzora nefrologa. Poliurija i nikturija su prvi znakovi bolesti uzrokovani poremećenom sposobnošću koncentriranja mokraće. Proteinurija počinje u drugom desetljeću života i obično je ispod nefrotske razine. Analizom mokraće nađu se hematurija i lipidurija. U sedimentu su prisutne nakupine lipida i znakoviti "malteški križevi". Odnedavno je u kliničkoj praksi dostupna enzimska nadomjesna terapija za liječenje Anderson-Fabrijeve bolesti. Dosad su na tržištu registrirana dva pripravka rekombinantnog enzima a-galaktozidaze A. Čini se da je moguće zaustaviti i možda čak ispraviti poremećaje u ciljnim organima pogođenim Anderson-Fabrijevom bolešću ako u njima nisu nastupile nepovratne promjene. Klinička istraživanja su dokazala učinkovitost i neškodljivost liječenja agalsidazom alfa ili beta. Uz povoljan učinak na bubrežnu funkciju, enzimska nadomjesna terapija je značajno poboljšala srčanu funkciju i kvalitetu života bolesnika. Glavni nedostatak nadomjesne terapije je vrlo visoka cijena liječenja koja predstavlja izazov čak i za najrazvijenije zemlje svijeta

Diagnostic Delays for Non-melanoma Skin Cancers in Renal Transplant Recipients during the COVID-19 Pandemic: What is Hiding Behind the Mask?

The ongoing pandemic of coronavirus disease 2019 (COVID-19) was declared by the World Health Organization on March 11, 2020, and remains a global challenge. COVID-19 is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), transmitted primarily through respiratory droplets and aerosols. Even though the COVID-19 vaccine has become available since December 2020, the main preventive measures still include social distancing, hand washing, and the use of protective face masks

DELIRIJ NAKON AKUTNOG COVID-19 U BOLESNIKA S TRANSPLANTIRANIM BUBREGOM

Delirium can manifest as a neurological complication after COVID-19 in immunocompromised patients. To date, several reports have described delirium associated with SARS-COV-2 infection in older patients. Herein we present a case of a younger adult with a kidney transplant, who became disoriented, confused, and restless after acute COVID-19 and was admitted to the psychiatric ward for delirium management. He recovered and had a stable allograft function in follow-up.Delirij se može manifestirati kao neurološka komplikacija nakon COVID-19 kod imunokompromitiranih bolesnika. Do danas je u nekoliko istraživanja opisan delirij u starijih osoba nakon infekcije COVID-19. Prikazali smo mlađeg bolesnika s presatkom bubrega koji je nakon preboljene infekcije SARS-CoV-2 postao dezorijentiran, zbunjen, nemiran i agresivan te je primljen na psihijatrijski odjel zbog liječenja delirija. Stanje bolesnika se postupno popravilo, a funkcija presatka bubrega ostala je stabilna