The complement system plays a key role in the host defense against pathogens. The deficiency of complement components predisposes the system to recurrent infections and autoimmune diseases. In particular, serum C5 deficiency (C5D) may be serious for human health, because this protein plays a key role in controlling infections, mainly with Neisseria spp.The aim of this article is to present the structure and function of the human C5 gene encoding complement component C5, with particular regard to the molecular characteristics of the mutations causing hereditary complement C5 deficiency.This article is based on the available literature. A total of 35 articles were included in the study.Based on the literature review, it was shown that C5 mediates inflammatory processes and bacterial cytolysis. The cause of hereditary C5 deficiency in humans is inefficient or reduced serum C5 biosynthesis, due to mutations in the C5 gene. This quantitative and functional C5 deficiency is associated with recurrent Neisseria spp. infections, the lack of bactericidal activity and an impaired ability of serum to induce chemotaxis. The molecular characterization of previously described C5D-related mutations in the human C5 gene has been performed, and the clinical presentation of some molecularly examined C5D probands has also been discussed.The deficiency of C5 protein, which bridges innate and adaptive immunity, is related with 18 different mutations in the C5 gene found in over 30 families of various origins. Screening for complement defects seems particularly important, especially in asymptomatic relatives of probands.
{"title":"Molecular aspects of hereditary complement component C5 deficiency in humans","authors":"Hanna Szymańska","doi":"10.29089/paom/188059","DOIUrl":"https://doi.org/10.29089/paom/188059","url":null,"abstract":"The complement system plays a key role in the host defense against pathogens. The deficiency of complement components predisposes the system to recurrent infections and autoimmune diseases. In particular, serum C5 deficiency (C5D) may be serious for human health, because this protein plays a key role in controlling infections, mainly with Neisseria spp.The aim of this article is to present the structure and function of the human C5 gene encoding complement component C5, with particular regard to the molecular characteristics of the mutations causing hereditary complement C5 deficiency.This article is based on the available literature. A total of 35 articles were included in the study.Based on the literature review, it was shown that C5 mediates inflammatory processes and bacterial cytolysis. The cause of hereditary C5 deficiency in humans is inefficient or reduced serum C5 biosynthesis, due to mutations in the C5 gene. This quantitative and functional C5 deficiency is associated with recurrent Neisseria spp. infections, the lack of bactericidal activity and an impaired ability of serum to induce chemotaxis. The molecular characterization of previously described C5D-related mutations in the human C5 gene has been performed, and the clinical presentation of some molecularly examined C5D probands has also been discussed.The deficiency of C5 protein, which bridges innate and adaptive immunity, is related with 18 different mutations in the C5 gene found in over 30 families of various origins. Screening for complement defects seems particularly important, especially in asymptomatic relatives of probands.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141648337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Over the last few years, there has been an increase in the prevalence of Blastocystis spp. in colorectal cancer (CRC) patients. Moreover, various in vitro and in vivo studies have highlighted that intestinal colonisation of Blastocystis spp. has an influence on host immune responses leading to cellular apoptosis and membrane permeability. It has been suggested that Blastocystis spp. is an important risk factor for the worsening of CRC.To present evidence concerning the association between CRC and Blastocystis spp.A review of the literature was performed by searching Science Direct, PubMed, Scopus and Google Scholar databases up to December, 2023.Out of all in vitro and in vivo studies selected for this review, the majority of them have confirmed a significantly higher prevalence of Blastocystis spp. in colorectal cancer patients in comparison to the control groups. Several in vitro human colorectal carcinoma cell line studies have shown significant cytopathic and immunological effects of Blastocystis spp. Additionally, in vivo experimental animal model studies have shown that Blastocystis spp. infection significantly contributed to large intestinal polyp (colorectal adenoma) formation and the progression of colorectal carcinogenesis.These studies strongly support suggestions that Blastocystis spp. could be an important factor to existing CRC development by influencing the host immune response and increasing oxidative damage.
{"title":"The two faces of Blastocystis spp.: is it the cause of colorectal cancer (CRC) or a consequence of it?","authors":"M. Lepczyńska","doi":"10.29089/paom/188591","DOIUrl":"https://doi.org/10.29089/paom/188591","url":null,"abstract":"Over the last few years, there has been an increase in the prevalence of Blastocystis spp. in colorectal cancer (CRC) patients. Moreover, various in vitro and in vivo studies have highlighted that intestinal colonisation of Blastocystis spp. has an influence on host immune responses leading to cellular apoptosis and membrane permeability. It has been suggested that Blastocystis spp. is an important risk factor for the worsening of CRC.To present evidence concerning the association between CRC and Blastocystis spp.A review of the literature was performed by searching Science Direct, PubMed, Scopus and Google Scholar databases up to December, 2023.Out of all in vitro and in vivo studies selected for this review, the majority of them have confirmed a significantly higher prevalence of Blastocystis spp. in colorectal cancer patients in comparison to the control groups. Several in vitro human colorectal carcinoma cell line studies have shown significant cytopathic and immunological effects of Blastocystis spp. Additionally, in vivo experimental animal model studies have shown that Blastocystis spp. infection significantly contributed to large intestinal polyp (colorectal adenoma) formation and the progression of colorectal carcinogenesis.These studies strongly support suggestions that Blastocystis spp. could be an important factor to existing CRC development by influencing the host immune response and increasing oxidative damage.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141646671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cercarial dermatitis (swimmer's itch) is a water-borne parasitic skin disease caused by larvae (cercariae) of a nonhuman species of schistosome. The prevailing symptoms are nodulopapular skin lesions accompanied by pruritus. The condition occurs virtually worldwide and is considered to be an emerging public health problem in Europe. In most cases, the symptoms are associated with cercariae of avian schistosomes of the genus Trichobilharzia spp.The aim of this review article is to present the most important information on the course of the disease, its diagnostics, treatment and epidemiology. Additionally, it offers an account of preventive measures targeted at reducing the risk of infection.A literature search was conducted using electronic databases such as PubMed, Google Scholar and Willey Online Library. Altogether, 40 articles were subject to analysis.The data obtained from the literature survey process were systematised and presented in 5 sections. Clinically, effective control of swimmer’s itch should comprise measures from the fields of diagnostics, treatment, epidemiology and prevention.Swimmer’s itch poses diagnostic difficulties, primarily due to the low specificity of its symptoms. Owing to a lack of conclusive data on the fate of cercariae penetrating human skin and a growing number of documented cases of cercarial dermatitis worldwide, further intensive research into the matter is warranted.
{"title":"Cercarial dermatitis: Clinical course and prevention","authors":"J. Korycińska","doi":"10.29089/paom/187008","DOIUrl":"https://doi.org/10.29089/paom/187008","url":null,"abstract":"Cercarial dermatitis (swimmer's itch) is a water-borne parasitic skin disease caused by larvae (cercariae) of a nonhuman species of schistosome. The prevailing symptoms are nodulopapular skin lesions accompanied by pruritus. The condition occurs virtually worldwide and is considered to be an emerging public health problem in Europe. In most cases, the symptoms are associated with cercariae of avian schistosomes of the genus Trichobilharzia spp.The aim of this review article is to present the most important information on the course of the disease, its diagnostics, treatment and epidemiology. Additionally, it offers an account of preventive measures targeted at reducing the risk of infection.A literature search was conducted using electronic databases such as PubMed, Google Scholar and Willey Online Library. Altogether, 40 articles were subject to analysis.The data obtained from the literature survey process were systematised and presented in 5 sections. Clinically, effective control of swimmer’s itch should comprise measures from the fields of diagnostics, treatment, epidemiology and prevention.Swimmer’s itch poses diagnostic difficulties, primarily due to the low specificity of its symptoms. Owing to a lack of conclusive data on the fate of cercariae penetrating human skin and a growing number of documented cases of cercarial dermatitis worldwide, further intensive research into the matter is warranted.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141687132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Samuel Stróż, P. Kosiorek, Edyta Zbroch, Bożena Mikołuć, Anna Stasiak-Barmuta
COVID-19 can have long-lasting effects, but the effects on blood parameters and inflammation are poorly understood. The aim of this study was to evaluate morphological and inflammatory markers in long-term COVID-19 patients.To evaluate complete blood count, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR) and morphology in mild versus severe long COVID-19.In total, 39 long COVID-19 patients were stratified into mild (n = 25) and severe (n = 14) groups. Blood counts, NLR, PLR were measured. Cell morphology was analysed. ROC curves were used to determine biomarker thresholds. Survival was assessed using Kaplan–Meier curves.Severe patients had lower leukocytes but higher neutrophils, indicating greater inflammation. NLR and PLR were significantly increased in severe patients compared to mild patients (NLR 12 vs 8; PLR 140 vs 100). NLR and PLR were higher than in controls, confirming their utility as inflammatory markers. NLR and PLR effectively discriminated between mild and severe disease. High NLR and PLR predicted poorer prognosis. Altered leukocyte morphology such as cytoplasmic vacuolization correlated with severity.NLR and PLR are promising biomarkers for assessing severity of long COVID-19, while morphological changes in blood cells provide additional evidence of inflammation. Further studies in larger populations are warranted.
COVID-19 可产生长期效应，但其对血液指标和炎症的影响却鲜为人知。本研究的目的是评估长期COVID-19患者的形态学和炎症指标。评估轻度与重度长期COVID-19患者的全血细胞计数、中性粒细胞与淋巴细胞比值（NLR）、血小板与淋巴细胞比值（PLR）和形态学。测量了血细胞计数、NLR、PLR。对细胞形态进行了分析。使用 ROC 曲线确定生物标志物阈值。重症患者的白细胞较低，但中性粒细胞较高，表明炎症较重。与轻度患者相比，重度患者的 NLR 和 PLR 明显升高（NLR 12 vs 8；PLR 140 vs 100）。NLR 和 PLR 均高于对照组，这证实了它们作为炎症标志物的作用。NLR 和 PLR 能有效区分轻度和重度疾病。高NLR和PLR预示着较差的预后。NLR和PLR是评估长COVID-19严重程度的有希望的生物标志物，而血细胞的形态变化则提供了炎症的额外证据。有必要在更大的人群中开展进一步研究。
{"title":"Evaluation of morphological parameters, PLR and NLR inflammation indicators in patients with long-term COVID-19 of mild and severe complexity","authors":"Samuel Stróż, P. Kosiorek, Edyta Zbroch, Bożena Mikołuć, Anna Stasiak-Barmuta","doi":"10.29089/paom/185881","DOIUrl":"https://doi.org/10.29089/paom/185881","url":null,"abstract":"COVID-19 can have long-lasting effects, but the effects on blood parameters and inflammation are poorly understood. The aim of this study was to evaluate morphological and inflammatory markers in long-term COVID-19 patients.To evaluate complete blood count, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR) and morphology in mild versus severe long COVID-19.In total, 39 long COVID-19 patients were stratified into mild (n = 25) and severe (n = 14) groups. Blood counts, NLR, PLR were measured. Cell morphology was analysed. ROC curves were used to determine biomarker thresholds. Survival was assessed using Kaplan–Meier curves.Severe patients had lower leukocytes but higher neutrophils, indicating greater inflammation. NLR and PLR were significantly increased in severe patients compared to mild patients (NLR 12 vs 8; PLR 140 vs 100). NLR and PLR were higher than in controls, confirming their utility as inflammatory markers. NLR and PLR effectively discriminated between mild and severe disease. High NLR and PLR predicted poorer prognosis. Altered leukocyte morphology such as cytoplasmic vacuolization correlated with severity.NLR and PLR are promising biomarkers for assessing severity of long COVID-19, while morphological changes in blood cells provide additional evidence of inflammation. Further studies in larger populations are warranted.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140660573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dinesh Alagoo, Harivinthan Sellappan, Saravana Kumar Rajanthran, N. Azizan, Nur Farehah Johari, Andee Dzulkarnaen Zakaria, F. Hayati
Synchronous colorectal adenocarcinoma with neuroendocrine tumour (NET) are a unique combination of tumours. These may be incidental lesions, usually a histopathological diagnosis rather than a clinical diagnosis from symptoms, examination or even gross appearances.This paper aims to highlight our management strategy on manging a middle-aged woman with synchronous rectal adenocarcinoma and NET.A 53-year-old woman presented with lower gastrointestinal bleeding with constitutional symptoms. Clinical examination and colonoscopy revealed a classical rectal adenocarcinoma, confirmed via biopsy. However, the final histopathology reports of the resected tumour revealed an early rectal adenocarcinoma with synchronous NET.We review the relevant literature and a discussion regarding guidelines available for diagnosis, follow-up and surveillance of this rare case.There are no current guidelines for surveillance colonoscopy after detecting gastrointestinal NET, particularly synchronous tumours. NET may be another colorectal cancer risk factor with similar mutations and common genetic markers. Clinicians should consider doing a colonoscopy when or if their patients are diagnosed with any gastrointestinal NET. Detection of any NET warrants a thorough evaluation of the whole colon for colorectal cancer and close surveillance so that timely management can be achieved.
同步性结直肠腺癌合并神经内分泌肿瘤（NET）是一种独特的肿瘤组合。这些肿瘤可能是偶发病变，通常是组织病理学诊断，而不是根据症状、检查甚至大体表现得出的临床诊断。本文旨在重点介绍我们对一名患有同步性直肠腺癌和NET的中年女性患者的处理策略。临床检查和结肠镜检查发现了典型的直肠腺癌，并经活检证实。我们回顾了相关文献，并就这一罕见病例的诊断、随访和监测指南进行了讨论。目前还没有在发现胃肠道 NET（尤其是同步肿瘤）后进行结肠镜监测的指南。NET可能是另一种具有类似突变和常见遗传标记的结直肠癌风险因素。当患者被诊断出患有任何胃肠道 NET 时，临床医生应考虑进行结肠镜检查。如果发现任何 NET，应彻底评估整个结肠是否存在结直肠癌，并进行密切监测，以便及时处理。
{"title":"Synchronous early rectal adenocarcinoma and neuroendocrine tumour: A treatment strategy","authors":"Dinesh Alagoo, Harivinthan Sellappan, Saravana Kumar Rajanthran, N. Azizan, Nur Farehah Johari, Andee Dzulkarnaen Zakaria, F. Hayati","doi":"10.29089/paom/185641","DOIUrl":"https://doi.org/10.29089/paom/185641","url":null,"abstract":"Synchronous colorectal adenocarcinoma with neuroendocrine tumour (NET) are a unique combination of tumours. These may be incidental lesions, usually a histopathological diagnosis rather than a clinical diagnosis from symptoms, examination or even gross appearances.This paper aims to highlight our management strategy on manging a middle-aged woman with synchronous rectal adenocarcinoma and NET.A 53-year-old woman presented with lower gastrointestinal bleeding with constitutional symptoms. Clinical examination and colonoscopy revealed a classical rectal adenocarcinoma, confirmed via biopsy. However, the final histopathology reports of the resected tumour revealed an early rectal adenocarcinoma with synchronous NET.We review the relevant literature and a discussion regarding guidelines available for diagnosis, follow-up and surveillance of this rare case.There are no current guidelines for surveillance colonoscopy after detecting gastrointestinal NET, particularly synchronous tumours. NET may be another colorectal cancer risk factor with similar mutations and common genetic markers. Clinicians should consider doing a colonoscopy when or if their patients are diagnosed with any gastrointestinal NET. Detection of any NET warrants a thorough evaluation of the whole colon for colorectal cancer and close surveillance so that timely management can be achieved.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140677168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rushit Jashari, F. Jashari, N. Dakaj, Gentian Lila, E. Komoni, D. Boshnjaku
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare autoimmune disorder affecting the central nervous system, characterized by a spectrum of neurological and psychiatric symptoms.This case study aims to highlight the diagnostic challenges and the successful management of SREAT syndrome in a young woman with autoimmune thyroiditis.A 21-year-old woman with documented Hashimoto's thyroiditis and polycystic ovary syndrome was admitted to the Clinic of Neurology following a 5-minute tonic seizure and subsequent confusion state lasting several hours. Initial brain MRI showed no abnormalities, and EEG revealed generalized slowness. Comprehensive laboratory assessments, including a complete blood count, biochemical analysis, and electrolyte panels, all yielded normal results. Further investigation revealed a significantly elevated anti-thyroid peroxidase antibody (anti-TPO) titer exceeding 1000 IU/mL. The suspicion of SREAT syndrome was considered. Pulse therapy with methylprednisolone was associated with rapid recovery. The patient was discharged from the hospital with an oral corticosteroid tapering regimen.The administration of pulse therapy with methylprednisolone resulted in a rapid and very good response in the patient, evidenced by the resolution of seizure activity and improvement in confusion. Laboratory investigations, particularly the markedly elevated anti-TPO titer, supported the diagnosis of SREAT syndrome. The subsequent management with an oral corticosteroid tapering regimen maintained the patient's clinical stability.This case highlights the importance of considering autoimmune encephalopathy in patients with a history of autoimmune thyroiditis presenting with neurological and psychiatric symptoms. Further research is warranted to better understand the underlying pathomechanisms.
{"title":"Steroid response encephalopathy associated with autoimmune thyroiditis","authors":"Rushit Jashari, F. Jashari, N. Dakaj, Gentian Lila, E. Komoni, D. Boshnjaku","doi":"10.29089/paom/185642","DOIUrl":"https://doi.org/10.29089/paom/185642","url":null,"abstract":"Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare autoimmune disorder affecting the central nervous system, characterized by a spectrum of neurological and psychiatric symptoms.This case study aims to highlight the diagnostic challenges and the successful management of SREAT syndrome in a young woman with autoimmune thyroiditis.A 21-year-old woman with documented Hashimoto's thyroiditis and polycystic ovary syndrome was admitted to the Clinic of Neurology following a 5-minute tonic seizure and subsequent confusion state lasting several hours. Initial brain MRI showed no abnormalities, and EEG revealed generalized slowness. Comprehensive laboratory assessments, including a complete blood count, biochemical analysis, and electrolyte panels, all yielded normal results. Further investigation revealed a significantly elevated anti-thyroid peroxidase antibody (anti-TPO) titer exceeding 1000 IU/mL. The suspicion of SREAT syndrome was considered. Pulse therapy with methylprednisolone was associated with rapid recovery. The patient was discharged from the hospital with an oral corticosteroid tapering regimen.The administration of pulse therapy with methylprednisolone resulted in a rapid and very good response in the patient, evidenced by the resolution of seizure activity and improvement in confusion. Laboratory investigations, particularly the markedly elevated anti-TPO titer, supported the diagnosis of SREAT syndrome. The subsequent management with an oral corticosteroid tapering regimen maintained the patient's clinical stability.This case highlights the importance of considering autoimmune encephalopathy in patients with a history of autoimmune thyroiditis presenting with neurological and psychiatric symptoms. Further research is warranted to better understand the underlying pathomechanisms.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140696556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Artur Fabijan, B. Polis, Agnieszka Zawadzka-Fabijan, Michal Kolejwa, Kacper Wróbel, J. Kujawa, Remigiusz Kozłowski, Michał Marczak, Krzysztof Zakrzewski, E. Nowosławska
Wolf–Hirschhorn syndrome (WHS) is a genetic disorder from a chromosomal deletion on chromosome 4, leading to systemic pathologies including spinal deformities like scoliosis.The objective of this publication is to present a case of scoliosis treatment in a patient with WHS, where the primary goal was to halt the progression of the curvature and achieve the most effective correction of the deformity, despite the guardians' refusal to extend the stabilization system to the pelvis.Preoperative radiographs revealed a single-curve scoliosis of 64°, as measured by the Cobb method between Th11 and L5. Prior to the scheduled procedure, a magnetic resonance imaging examination of the spinal column was conducted to potentially visualize any spinal cord pathology. A corrective procedure, posterior spinal fusion, was performed using cobalt-chrome rods. A postoperative posturographic control examination was conducted, and follow-up outpatient visits were recommended.Despite not implementing the stabilization system to the pelvis, a reduction in deformation by 22° was achieved, resulting in 42° measured between Th11 and L5. In a follow-up examination 18 months post-operation, the degree of deformity remained stable, maintaining the curvature angle of 42° measured between Th11 and L5.Treating scoliosis in patients with WHS requires a tailored approach, considering the specifics of their condition and utilizing optimal spinal stabilization methods. A multidisciplinary approach, integrating various therapeutic modalities, is crucial for enhancing the quality of life of WHS patients.
{"title":"A focused surgical case report: Managing scoliosis in Wolf–Hirschhorn syndrome","authors":"Artur Fabijan, B. Polis, Agnieszka Zawadzka-Fabijan, Michal Kolejwa, Kacper Wróbel, J. Kujawa, Remigiusz Kozłowski, Michał Marczak, Krzysztof Zakrzewski, E. Nowosławska","doi":"10.29089/paom/177551","DOIUrl":"https://doi.org/10.29089/paom/177551","url":null,"abstract":"Wolf–Hirschhorn syndrome (WHS) is a genetic disorder from a chromosomal deletion on chromosome 4, leading to systemic pathologies including spinal deformities like scoliosis.The objective of this publication is to present a case of scoliosis treatment in a patient with WHS, where the primary goal was to halt the progression of the curvature and achieve the most effective correction of the deformity, despite the guardians' refusal to extend the stabilization system to the pelvis.Preoperative radiographs revealed a single-curve scoliosis of 64°, as measured by the Cobb method between Th11 and L5. Prior to the scheduled procedure, a magnetic resonance imaging examination of the spinal column was conducted to potentially visualize any spinal cord pathology. A corrective procedure, posterior spinal fusion, was performed using cobalt-chrome rods. A postoperative posturographic control examination was conducted, and follow-up outpatient visits were recommended.Despite not implementing the stabilization system to the pelvis, a reduction in deformation by 22° was achieved, resulting in 42° measured between Th11 and L5. In a follow-up examination 18 months post-operation, the degree of deformity remained stable, maintaining the curvature angle of 42° measured between Th11 and L5.Treating scoliosis in patients with WHS requires a tailored approach, considering the specifics of their condition and utilizing optimal spinal stabilization methods. A multidisciplinary approach, integrating various therapeutic modalities, is crucial for enhancing the quality of life of WHS patients.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140424455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The present state of Polish transplantology and nephrology was created to a great extent by prof. Wojciech Rowiński due to his excellent organizational, clinical, and didactic skills. His major field of interest was the pathophysiology of the ischemic damage in donor organs; especially kidneys. Together with his colleagues, he was responsible for the implementation of hypothermic pulsatile perfusion in order to preserve a cadaveric kidney until it could be used in clinical practice. The procedure has been in use since 1995 and has been an extremely important achievement in the reduction of the incidence of posttransplant acute tubular necrosis.The purpose of our work is to introduce the reader to the person of Wojciech Rowiński.The work is based on the available literature. The search process resulted in the detection of relevant articles using valid keywords on electronic databases, including Embase, PubMed, Scopus, Web of Science, and Cochrane Library. Subsequently, 11 were identified as eligible for our review.In 2008, due to Rowiński's initiative, the Parliament of the Republic of Poland accepted a resolution regarding the approval of transplantation as a method of treatment.Rowiński's pioneering efforts and innovative techniques in transplantology had a profound impact on the field, leading to improved organ preservation, reduced complications, and enhanced ethical considerations.
波兰移植学和肾脏病学的现状在很大程度上是由 Wojciech Rowiński 教授创造的。沃伊切赫-罗文斯基（Wojciech Rowiński）教授出色的组织、临床和教学能力造就了波兰移植学和肾脏病学的今天。他的主要研究领域是供体器官（尤其是肾脏）缺血性损伤的病理生理学。他和同事们一起，负责实施低温脉冲灌注，以保存尸体肾脏，直至可用于临床实践。该程序自 1995 年开始使用，在减少移植后急性肾小管坏死的发生率方面取得了极其重要的成就。我们的作品旨在向读者介绍沃伊切赫-罗文斯基本人。在检索过程中，我们使用有效的关键词在 Embase、PubMed、Scopus、Web of Science 和 Cochrane Library 等电子数据库中检索到了相关文章。2008 年，在罗文斯基的倡议下，波兰共和国议会通过了一项决议，批准将移植作为一种治疗方法。罗文斯基在移植学领域的开拓性努力和创新技术对该领域产生了深远影响，改善了器官保存，减少了并发症，并加强了伦理考虑。
{"title":"Wojciech Rowiński (1935–2014) – a pioneer of Polish transplantology and a mentor","authors":"Katarzyna Podhorodecka, Kruminis-Kaszkiel Ewa, Adadyński Leszek, Kędziora Bartosz, Wojtkiewicz Joanna, Kowalski Ireneusz","doi":"10.29089/paom/176219","DOIUrl":"https://doi.org/10.29089/paom/176219","url":null,"abstract":"The present state of Polish transplantology and nephrology was created to a great extent by prof. Wojciech Rowiński due to his excellent organizational, clinical, and didactic skills. His major field of interest was the pathophysiology of the ischemic damage in donor organs; especially kidneys. Together with his colleagues, he was responsible for the implementation of hypothermic pulsatile perfusion in order to preserve a cadaveric kidney until it could be used in clinical practice. The procedure has been in use since 1995 and has been an extremely important achievement in the reduction of the incidence of posttransplant acute tubular necrosis.The purpose of our work is to introduce the reader to the person of Wojciech Rowiński.The work is based on the available literature. The search process resulted in the detection of relevant articles using valid keywords on electronic databases, including Embase, PubMed, Scopus, Web of Science, and Cochrane Library. Subsequently, 11 were identified as eligible for our review.In 2008, due to Rowiński's initiative, the Parliament of the Republic of Poland accepted a resolution regarding the approval of transplantation as a method of treatment.Rowiński's pioneering efforts and innovative techniques in transplantology had a profound impact on the field, leading to improved organ preservation, reduced complications, and enhanced ethical considerations.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140426889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. S. Mohamad, Idzman Idros, Sabrina Jane Dass, Mohammad Zawawi Yaacob, Voon Meng Leow
Poland syndrome is a rare congenital anomaly that occurs in 1 in 30,000 children. It is characterised by unilateral underdevelopment or lack of the chest wall muscle that is apparent at birth. Rarely is it discovered to involve a bilateral chest muscular deficit. Poland syndrome presents in a wide variety of ways, which can often make diagnosis challenging.We would like to highlight the rarity of Poland syndrome, and the challenges of post-operative recovery, primarily the ventilation.We presented a case of a 44-year-old female with non-investigated chest wall deformity, whom required emergency surgical intervention under general anaesthesia. Post-operatively, she required prolonged ventilatory support, and was then diagnosed with Poland syndrome.The patient had undergone an emergency laparotomy and left lateral hepatectomy for left hepatolithiasis with liver abscess. Post-operation, she required prolonged ventilation, with gradual weaning of oxygen. Imaging studies showed absence of left pectoralis major, thus a diagnosis of Poland syndrome. Gradually she was weaned off and had a successful post operative recovery.Poland syndrome is a rare congenital abnormality. In patients undergoing general anaesthesia, the normal mechanics of breathing while ventilated are absent. Their recovery is longer and requires prolonged ICU admission.
{"title":"Poland syndrome: A case of difficult weaning of ventilation after surgery","authors":"I. S. Mohamad, Idzman Idros, Sabrina Jane Dass, Mohammad Zawawi Yaacob, Voon Meng Leow","doi":"10.29089/paom/178080","DOIUrl":"https://doi.org/10.29089/paom/178080","url":null,"abstract":"Poland syndrome is a rare congenital anomaly that occurs in 1 in 30,000 children. It is characterised by unilateral underdevelopment or lack of the chest wall muscle that is apparent at birth. Rarely is it discovered to involve a bilateral chest muscular deficit. Poland syndrome presents in a wide variety of ways, which can often make diagnosis challenging.We would like to highlight the rarity of Poland syndrome, and the challenges of post-operative recovery, primarily the ventilation.We presented a case of a 44-year-old female with non-investigated chest wall deformity, whom required emergency surgical intervention under general anaesthesia. Post-operatively, she required prolonged ventilatory support, and was then diagnosed with Poland syndrome.The patient had undergone an emergency laparotomy and left lateral hepatectomy for left hepatolithiasis with liver abscess. Post-operation, she required prolonged ventilation, with gradual weaning of oxygen. Imaging studies showed absence of left pectoralis major, thus a diagnosis of Poland syndrome. Gradually she was weaned off and had a successful post operative recovery.Poland syndrome is a rare congenital abnormality. In patients undergoing general anaesthesia, the normal mechanics of breathing while ventilated are absent. Their recovery is longer and requires prolonged ICU admission.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140426409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Food additives are used in foods by manufacturers to prevent unfavourable changes in colour, taste and smell and to extend shelf life. Consumption of highly processed products containing large amounts of food additives can lead to accumulation of these substances in the body and cause adverse health effects.The aim of the study was to assess parents' knowledge of selected food additives and their impact on the health of preschool children.The original survey was conducted in March 2022. In total, 112 parents of preschool children attending kindergartens in the Silesian Voivodeship were interviewed. The questionnaire consisted of information and 18 questions, including the respondents' awareness of the presence of food additives in food and their impact on human health. The survey results were prepared in Microsoft Office Excel 2019 and Statistica.It was found that less than half of those surveyed (45.53%) thought that the information provided on food additives was easy to understand. More than half of those surveyed (52.68%) did not know that the consumption of products with added benzoic acid can lead to hypersensitivity reactions in patients with bronchial asthma, allergic rhinitis and skin allergies.The potential health effects of consuming foods containing selected food additives were not known by most of the parents surveyed. Educational activities to increase parents' knowledge about food additives are recommended.
{"title":"What do parents of children know about food additives in selected foods?","authors":"Paulina Polak, Weronika Osmala-Kurpiewska","doi":"10.29089/paom/181533","DOIUrl":"https://doi.org/10.29089/paom/181533","url":null,"abstract":"Food additives are used in foods by manufacturers to prevent unfavourable changes in colour, taste and smell and to extend shelf life. Consumption of highly processed products containing large amounts of food additives can lead to accumulation of these substances in the body and cause adverse health effects.The aim of the study was to assess parents' knowledge of selected food additives and their impact on the health of preschool children.The original survey was conducted in March 2022. In total, 112 parents of preschool children attending kindergartens in the Silesian Voivodeship were interviewed. The questionnaire consisted of information and 18 questions, including the respondents' awareness of the presence of food additives in food and their impact on human health. The survey results were prepared in Microsoft Office Excel 2019 and Statistica.It was found that less than half of those surveyed (45.53%) thought that the information provided on food additives was easy to understand. More than half of those surveyed (52.68%) did not know that the consumption of products with added benzoic acid can lead to hypersensitivity reactions in patients with bronchial asthma, allergic rhinitis and skin allergies.The potential health effects of consuming foods containing selected food additives were not known by most of the parents surveyed. Educational activities to increase parents' knowledge about food additives are recommended.","PeriodicalId":38569,"journal":{"name":"Polish Annals of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140427318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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