Homozygous form of hereditary hemochromatosis in a patient with beta-thalassemia minor: case report

Uvod: Dijagnostički pristup bolesniku koji istodobno boluje od nasljedne hemokromatoze i beta-talasemije može biti dosta složen zbog činjenice da teži oblici beta-talasemije sami po sebi mogu imati za posljedicu hemokromatozu. S druge strane, i najlakši oblik beta-talasemije može dovesti do ozbiljnih manifestacija hemokromatoze u bolesnika s heterozigotnim oblikom HFE polimorfizama. Ova stanja, kao i HFE polimorfizmi naslijeđeni u homozigotnom obliku kao rizični čimbenici za razvoj hemokromatoze mogu imati za posljedicu cirozu jetre i hepatocelularni karcinom pa pravodobno prepoznavanje navedenih stanja ima presudno značenje za dužinu i kvalitetu bolesnikova života. Metode: Za prikaz slučaja izabran je bolesnik primljen na Kliniku za zarazne bolesti Kliničke bolnice Osijek s febrilitetom, hepatosplenomegalijom i neurološkim simptomima. Kod prijma su učinjene osnovne laboratorijske pretrage te ultrazvučni pregled abdomena i snimanje glave magnetskom rezonancijom. Naknadno je provedena biopsija jetre, elektroforeza hemoglobina te određivanje koncentracije haptoglobina i utvrđivanje Cys282Tyr polimorfizma HFE gena. Rezultati: Anamnestički podaci i rezultati rutinske laboratorijske obrade su ukazali na mogućnost da bolesnik boluje od beta-talasemije. Proširenom laboratorijskom obradom je dijagnosticirana pigmentna ciroza-hemokromatoza, a potvrđena je dijagnoza beta-talasemije minor. Odgovarajući moleularno-dijagnostički postupak je dokazao prisutnost homozigotnog oblika nasljedne hemokromatoze. Zaključak: Određivanje koncentracije feritina i zasićenje transferina željezom, elektroforeza hemoglobina i utvrđivanje polimorfizma Cys282Tyr HFE gena pokazali su se ključnim čimbenicima za relativno brzo postavljanje ispravne dijagnoze u prikazanom slučaju istodobnog nasljeđivanja beta-talasemije minor i homozigotnog oblika nasljedne hemokromatoze. Homozigotni oblik nasljedne hemokromatoze uz beta-talasemiju minor objašnjava težinu simptoma prisutnih kod bolesnika u vrijeme hospitalizacije.Background: Diagnostic approach to the simultaneous inheritance of beta-thalassemia and hereditary hemochromatosis might be quite complex due to the fact that severe beta-thalassemia itself may lead to hemochromatosis. On the other hand, beta-thalassemia minor accompanied by some heterozygous form of HFE polymorphism may also lead to the disease manifestation. These conditions as well as the homozygous forms of HFE polymorphisms are hemochromatosis risk factors that may lead to liver cirrhosis and hepatocellular carcinoma. Therefore, early diagnosis is crucial for patient quality of life and life expectancy. Methods: A febrile patient admitted to Department of Infectious Diseases, Osijek University Hospital, with hepatosplenomegaly and some neurological symptoms has been chosen for this case report. Basic laboratory tests as well as ultrasound examination of the abdomen and magnetic resonance imaging of the head were performed shortly upon admission. Liver biopsy, hemoglobin electrophoresis, haptoglobin concentration and Cys282Tyr polymorphism determination were subsequently obtained. Results: History data and laboratory findings suggested the diagnosis of beta-thalassemia. Extended laboratory work-up pointed to the diagnosis of pigment cirrhosis-hemochromatosis, and verified the diagnosis of beta-thalassemia minor. Appropriate molecular diagnostic procedure indicated the homozygous form of hereditary hemochromatosis. Conclusions: In this case of homozygous hereditary hemochromatosis and beta-thalassemia minor coinheritance, serum ferritin concentration, tran-sferrin saturation, hemoglobin electrophoresis and HFE gene Cys282Tyr polymorphism analysis proved to be crucial for the relatively fast establishment of accurate diagnosis. Recognition of the homozygous form of hemochromatosis in association with beta-thalassemia minor explained the complexity and severity of the disease presentation

THE FIRST WAVE OF THE COVID-19 PANDEMIC AND ITS IMPACT ON THE LEVEL OF DISTRESS IN PATIENTS WITH BREAST CANCER, A MULTICENTRIC STUDY

Background: Information on the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), later termed coronavirus disease (COVID-19), first emerged by the end of 2019. As the pandemic spread, cancer patients were immediately recognized as a high-risk population with regard to COVID-19 infection. Moreover, epidemiological measures, like social distancing and lockdowns, additionally burdened patients with cancer. Even outside pandemic breast cancer patients are prone to psychological distress with prevalence ranging approximately 20-40%. This multicentric study aimed to examine the impact of COVID-19 pandemic on the level of distress among breast cancer patients in Croatia while the first wave of COVID-19 pandemic. Subjects and methods: Fife hundred forty-five breast cancer patients were offered to participate in the study. A total of two hundred and one patient, with disease stages ranging I-IV, completed the questionnaire. The questionnaire consisted of disease and socio-demographic characteristics followed by the Distress Thermometer and a problem list. The cut off value of 4 was used to define the high level of distress within Distress Thermometer. Results: High distress level was reported in 54.2% of patients. The most significant problems reported by the participants of our study affected emotions, causing worry, sadness, depression, fear, and nervousness. Additionally, specific practical problems emerged (e.g., child care, housing, and work/school), most probably partly due to the lockdowns and social distancing. Interestingly enough, none of the socio-demographic or disease characteristics were linked to the level of distress. Conclusions: During first wave of COVID-19 pandemic more than half of breast cancer patients, undergoing active oncologic treatment, experienced a high level of distress. Therefore, distress driven by the COVID-19 pandemic should be promptly addressed and additional psychological and social support, targeting specific practical and emotional problems, should be provided for those patients. All the more so as global COVID-19 pandemic far exceeded the duration of the first wave

THE FIRST WAVE OF THE COVID-19 PANDEMIC AND ITS IMPACT ON THE LEVEL OF DISTRESS IN PATIENTS WITH BREAST CANCER, A MULTICENTRIC STUDY

Background: Information on the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), later termed coronavirus disease (COVID-19), first emerged by the end of 2019. As the pandemic spread, cancer patients were immediately recognized as a high-risk population with regard to COVID-19 infection. Moreover, epidemiological measures, like social distancing and lockdowns, additionally burdened patients with cancer. Even outside pandemic breast cancer patients are prone to psychological distress with prevalence ranging approximately 20-40%. This multicentric study aimed to examine the impact of COVID-19 pandemic on the level of distress among breast cancer patients in Croatia while the first wave of COVID-19 pandemic. Subjects and methods: Fife hundred forty-five breast cancer patients were offered to participate in the study. A total of two hundred and one patient, with disease stages ranging I-IV, completed the questionnaire. The questionnaire consisted of disease and socio-demographic characteristics followed by the Distress Thermometer and a problem list. The cut off value of 4 was used to define the high level of distress within Distress Thermometer. Results: High distress level was reported in 54.2% of patients. The most significant problems reported by the participants of our study affected emotions, causing worry, sadness, depression, fear, and nervousness. Additionally, specific practical problems emerged (e.g., child care, housing, and work/school), most probably partly due to the lockdowns and social distancing. Interestingly enough, none of the socio-demographic or disease characteristics were linked to the level of distress. Conclusions: During first wave of COVID-19 pandemic more than half of breast cancer patients, undergoing active oncologic treatment, experienced a high level of distress. Therefore, distress driven by the COVID-19 pandemic should be promptly addressed and additional psychological and social support, targeting specific practical and emotional problems, should be provided for those patients. All the more so as global COVID-19 pandemic far exceeded the duration of the first wave

Primary Central Nervous System Anaplastic Large T-cell Lymphoma

INTRODUCTION: Primary central nervous system lymphoma (PCNSL) of T-cell origin is an exceptionally rare, highly malignant intracranial neoplasm. Although such a tumor typically presents with a focal mass lesion. CASE REPORT: Past medical history of a 26-year-old male patient with a PCNS lymphoma of T-cell origin was not suggestive of intracranial pathology or any disorder of other organs and organic systems. To achieve a gross total tumor resection, surgery was performed via osteoplastic craniotomy using the left frontal transcortical transventricular approach. Histological and immunohistochemical analyses of the tissue removed described tumor as anaplastic large cell lymphoma of T-cells (T-ALCL). Postoperative and neurological recovery was complete, while control imaging of the brain showed no signs of residual tumor at a six-month follow-up. The patient, who did not appear immunocompromized, was referred to a hematologist and an oncologist where corticosteroids, the particular chemotherapeutic protocol and irradiation therapy were applied. CONCLUSION: Since PCNS lymphoma is a potentially curable brain tumor, we believe that proper selection of the management options, including early radical tumor resection for solitary PCNS lymphoma, may be proposed as a major treatment of such a tumor in selected patients, resulting in a satisfactory outcome

Primary Central Nervous System Anaplastic Large T-cell Lymphoma

INTRODUCTION: Primary central nervous system lymphoma (PCNSL) of T-cell origin is an exceptionally rare, highly malignant intracranial neoplasm. Although such a tumor typically presents with a focal mass lesion. CASE REPORT: Past medical history of a 26-year-old male patient with a PCNS lymphoma of T-cell origin was not suggestive of intracranial pathology or any disorder of other organs and organic systems. To achieve a gross total tumor resection, surgery was performed via osteoplastic craniotomy using the left frontal transcortical transventricular approach. Histological and immunohistochemical analyses of the tissue removed described tumor as anaplastic large cell lymphoma of T-cells (T-ALCL). Postoperative and neurological recovery was complete, while control imaging of the brain showed no signs of residual tumor at a six-month follow-up. The patient, who did not appear immunocompromized, was referred to a hematologist and an oncologist where corticosteroids, the particular chemotherapeutic protocol and irradiation therapy were applied. CONCLUSION: Since PCNS lymphoma is a potentially curable brain tumor, we believe that proper selection of the management options, including early radical tumor resection for solitary PCNS lymphoma, may be proposed as a major treatment of such a tumor in selected patients, resulting in a satisfactory outcome

Analysis of clinical factors associated with survival in patients with soft-tissue sarcoma receiving trabectedin

Soft-tissue sarcomas (STSs) are a heterogeneous group of rare malignancies. Treatment for advanced STS usually starts with anthracycline-based therapies, with no clear sequence for further treatment. A preferred option is trabectedin, especially for liposarcoma and leiomyosarcoma (L-sarcoma). However, due to severe side effects and few clinical trials, further research of the parameters affecting survival is necessary for the optimal selection of patients. We retrospectively analyzed 73 consecutive patients with STS treated with trabectedin at the University Hospital Centers at Zagreb and Osijek from 2014 to 2021. Our primary goals were evaluating factors affecting progression-free survival (PFS) and overall survival (OS). The median PFS and OS for trabectedin were 3.6 months and 13.7 months, respectively. Patients with L-sarcoma exhibited longer PFS and a trend towards longer OS compared to those with non-L-sarcoma. However, these effects were primarily a result of the myxoid liposarcoma subtype, which exhibited a median PFS of 21.1 months and a median OS of 33.3 months, both significantly longer compared to non-myxoid L-sarcoma. Additionally, patients with three or more sites of metastases exhibited shorter median PFS (3.1 months vs. 3.6 months) and OS (5.7 months vs. 23.8 months) compared to only one metastatic site. There was no correlation between the PFS values of trabectedin and pazopanib and no difference in survival, regardless of the treatment sequence. Trabectedin treatment yields the greatest survival benefit in patients with myxoid liposarcoma and low metastatic burden, whereas the additional use of pazopanib provides further clinical benefit, regardless of treatment sequence

Analysis of clinical factors associated with survival in patients with soft-tissue sarcoma receiving trabectedin

Soft-tissue sarcomas (STSs) are a heterogeneous group of rare malignancies. Treatment for advanced STS usually starts with anthracycline-based therapies, with no clear sequence for further treatment. A preferred option is trabectedin, especially for liposarcoma and leiomyosarcoma (L-sarcoma). However, due to severe side effects and few clinical trials, further research of the parameters affecting survival is necessary for the optimal selection of patients. We retrospectively analyzed 73 consecutive patients with STS treated with trabectedin at the University Hospital Centers at Zagreb and Osijek from 2014 to 2021. Our primary goals were evaluating factors affecting progression-free survival (PFS) and overall survival (OS). The median PFS and OS for trabectedin were 3.6 months and 13.7 months, respectively. Patients with L-sarcoma exhibited longer PFS and a trend towards longer OS compared to those with non-L-sarcoma. However, these effects were primarily a result of the myxoid liposarcoma subtype, which exhibited a median PFS of 21.1 months and a median OS of 33.3 months, both significantly longer compared to non-myxoid L-sarcoma. Additionally, patients with three or more sites of metastases exhibited shorter median PFS (3.1 months vs. 3.6 months) and OS (5.7 months vs. 23.8 months) compared to only one metastatic site. There was no correlation between the PFS values of trabectedin and pazopanib and no difference in survival, regardless of the treatment sequence. Trabectedin treatment yields the greatest survival benefit in patients with myxoid liposarcoma and low metastatic burden, whereas the additional use of pazopanib provides further clinical benefit, regardless of treatment sequence

Impact of the coronavirus disease pandemic on cancer care in Croatia: a multicentre cross-sectional study

Purpose: The coronavirus disease (COVID-19) pandemic has greatly affected the oncology community worldwide. Lockdowns, an epidemiological measure, have made it difficult for oncologists to provide care. In this study, we analysed the impact of the COVID-19 pandemic on Croatian cancer care. ----- Methods: This was a multicentre cross-sectional observational study of 422 patients who received systemic oncology therapy during the pandemic. The patients completed a survey to capture their views on the impact of the COVID-19 pandemic on their cancer care. Univariate descriptive and bivariate analyses were performed to analyse the relationship between the patients' perspective on the impact of the COVID-19 pandemic on cancer care and the quality of Croatian cancer care and their clinical and sociodemographic data. ----- Results: Discontinuation or change in cancer treatment during the COVID-19 pandemic was observed in 10.2% of cases. Most did not change their place of treatment owing to the lockdown (97.6%). 14.7% of the patients felt that the quality of cancer care received had changed during the pandemic. ----- Conclusions: In the first few months of the pandemic, Croatia had a favourable epidemiological situation. However, 25% of patients with cancer reported that the pandemic affected cancer treatment and the quality of cancer care