Long bone metastases as predictors of survival in patients with metastatic renal cancer

BACKGROUND: The aim of this study was to assess the prevalence of long bone metastases in renal cancer patients and to evaluate their utility as predictors of survival in this group. MATERIAL AND METHODS: This retrospective study included 20 patients with metastatic renal cancer and bone metastases. The patients were referred for regular bone scintigraphy in order to assess disease spread in the skeleton. The patients were divided into two groups: those with 1) metastases in the skeleton (including long bones) and those with 2) metastases in the axial skeleton only. RESULTS: Bone scintigraphy imaging was performed regularly up to 81 months from the first positive bone scan. During that time 11 deaths (8 among patients with long bone lesions) were recorded. Kaplan-Meyer curves showed that patients with long bone metastases tend to have lower survival probability in comparison to the ones with metastases in other bones. CONCLUSIONS: Bone metastases localization seems to influence survival in patients with renal cancer. Long bone-involving spread of the disease is associated with worse survival probability than the spread to the other bones

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%–90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in “lethal regions”. Our results contribute to a better understanding of the clinical and genetic aspects of OI

Scyntygrafia kości w diagnostyce reumatoidalnego zapalenia stawów

Celem pracy była ocena przydatności trójfazowej dynamicznejscyntygrafii kości w diagnostyce reumatoidalnego zapalenia stawów.Badaniem objęto 39 chorych hospitalizowanych i diagnozowanychz powodu dolegliwości stawowych. Przeprowadzono diagnostykęobejmującą: badanie podmiotowe, przedmiotowe, badania laboratoryjneoraz obrazowe, w tym trójfazową scyntygrafię kości z użyciemtechnetu 99m. Scyntygraficzne cechy zapalenia stawówstwierdzano, gdy obserwowano wzmożone gromadzenie znacznikawe wszystkich trzech fazach badania.Po ukończeniu diagnostyki rozpoznano u 13 chorych wczesne reumatoidalnezapalenie stawów, u 4 reumatoidalne zapalenie stawów(łącznie 17 pacjentów), a u 1 niezróżnicowane zapalenie stawów.Scyntygrafia kości wykazała cechy zapalenia stawów u 13spośród nich (72,2%), u 4 osób (22,2%) wzmożone gromadzeniestwierdzono tylko w fazie statycznej, a u 1 pacjenta (5,6%) uzyskanoprawidłowy wynik badania. U 21 chorych wykluczono chorobęzapalną stawów (u 19 rozpoznano fibromialgię, u 2 chorobęzwyrodnieniową). W grupie bez zapalenia stawów u 14 pacjentów(66,6%) nie stwierdzono istotnych nieprawidłowości w obraziescyntygraficznym, u 6 (28,6%) występowało wzmożone gromadzenieznacznika w badaniu statycznym, a u 1 chorego (4,8%) opisanoscyntygraficzne cechy zapalenia stawów.Wbadanej grupie czułość scyntygrafii dynamicznej kości w wykrywaniuzapalenia stawów wynosiła 72,2% (95% CI: 57,5–76,8), a swoistość 95,2% (95% CI: 82,8–99,1). Dodatni wynik badaniadynamicznego wskazuje z dużym prawdopodobieństwem naobecność zapalenia stawów [PPV 92,9% (95% CI: 74,2–98,7)].Mniej wiarygodny był ujemny wynik badania [NPV 80% (95% CI:69,5–83,3)]. Wyniki niniejszej pracy wskazują, że trójfazowa scyntygrafia dynamicznakości może mieć zastosowanie w diagnostyce reumatoidalnegozapalenia stawów

Table_1_NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.xlsx

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%–90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in “lethal regions”. Our results contribute to a better understanding of the clinical and genetic aspects of OI.</p

Table_3_NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.xlsx

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%–90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in “lethal regions”. Our results contribute to a better understanding of the clinical and genetic aspects of OI.</p

Table_2_NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.docx

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%–90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in “lethal regions”. Our results contribute to a better understanding of the clinical and genetic aspects of OI.</p