Pub Date : 2025-01-01DOI: 10.14712/23362936.2025.16
Federica Masino, Laura Eusebi, Manuela Montatore, Giuseppe Maria Andrea D'Arma, Giuseppe Sortino, Lucia Pitoni, Alessandra Filosa, Giuseppe Guglielmi
A 54-year-old man presented to our clinic complaining of painful ejaculation. The patient underwent various imaging modalities, including ultrasound, transrectal ultrasound, prostate magnetic resonance imaging and positron emission tomography/computed tomography that detected a voluminous mass originating from the prostate. Histological examination diagnosed a prostate sarcoma, a rare mesenchymal tumour. This case offers an opportunity to evaluate a rare subtype of prostate cancer and to describe its main imaging features with an educational approach.
{"title":"Imaging Features of Prostate Sarcoma: A Case Report.","authors":"Federica Masino, Laura Eusebi, Manuela Montatore, Giuseppe Maria Andrea D'Arma, Giuseppe Sortino, Lucia Pitoni, Alessandra Filosa, Giuseppe Guglielmi","doi":"10.14712/23362936.2025.16","DOIUrl":"https://doi.org/10.14712/23362936.2025.16","url":null,"abstract":"<p><p>A 54-year-old man presented to our clinic complaining of painful ejaculation. The patient underwent various imaging modalities, including ultrasound, transrectal ultrasound, prostate magnetic resonance imaging and positron emission tomography/computed tomography that detected a voluminous mass originating from the prostate. Histological examination diagnosed a prostate sarcoma, a rare mesenchymal tumour. This case offers an opportunity to evaluate a rare subtype of prostate cancer and to describe its main imaging features with an educational approach.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 2","pages":"96-102"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650775","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}
Pub Date : 2025-01-01DOI: 10.14712/23362936.2025.8
Victor Sudário Takahashi, Thiago Ribeiro Dos Santos, Márcio Luís Duarte
Pronator teres syndrome is characterized by compression of the median nerve, leading to dysfunction of the affected limb. Median nerve entrapment causes paresthesia, changes in sensitivity, and loss of strength in the fingers, in addition to causing loss of hand dexterity. The diagnosis of pronator teres syndrome is complicated, due to its similarity with other neuropathies of the median nerve. So, it is important to emphasize the need for a physical examination together with imaging tests, especially ultrasound, for its correct diagnosis. We report the case of a 28-year-old woman who complained of tingling for ten years in the proximal third of the left forearm at rest that worsens on exertion and weakness if not moving. On physical examination, she has no limitation of movement but refers to a feeling of weakness and numbness in his forearm. Ultrasonography demonstrates compression of the median nerve between the ulnar and humeral heads of the pronator teres muscle, a finding confirmed by magnetic resonance imaging and electroneuromyography. The patient was treated with physiotherapy presenting improvement of symptoms after 45 days.
{"title":"Pronator Teres Syndrome - Case Report with Imaging Tests Diagnosis.","authors":"Victor Sudário Takahashi, Thiago Ribeiro Dos Santos, Márcio Luís Duarte","doi":"10.14712/23362936.2025.8","DOIUrl":"10.14712/23362936.2025.8","url":null,"abstract":"<p><p>Pronator teres syndrome is characterized by compression of the median nerve, leading to dysfunction of the affected limb. Median nerve entrapment causes paresthesia, changes in sensitivity, and loss of strength in the fingers, in addition to causing loss of hand dexterity. The diagnosis of pronator teres syndrome is complicated, due to its similarity with other neuropathies of the median nerve. So, it is important to emphasize the need for a physical examination together with imaging tests, especially ultrasound, for its correct diagnosis. We report the case of a 28-year-old woman who complained of tingling for ten years in the proximal third of the left forearm at rest that worsens on exertion and weakness if not moving. On physical examination, she has no limitation of movement but refers to a feeling of weakness and numbness in his forearm. Ultrasonography demonstrates compression of the median nerve between the ulnar and humeral heads of the pronator teres muscle, a finding confirmed by magnetic resonance imaging and electroneuromyography. The patient was treated with physiotherapy presenting improvement of symptoms after 45 days.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 1","pages":"42-45"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538093","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}
Pub Date : 2025-01-01DOI: 10.14712/23362936.2025.38
Jheniffer Rodrigues Cação, Márcio Luís Duarte
Isolated trapezium fractures are a rare type of injury, accounting for approximately 4% of all carpal fractures. Due to their nonspecific symptoms and difficulty in detection with conventional radiography, these fractures are often underdiagnosed. This case report details a 22-year-old male who sustained a trapezium fracture after a motorcycle accident. The patient presented with wrist pain and mild edema, but radiographs were normal. However, computed tomography (CT) revealed a small fracture in the dorsal portion of the trapezium. Conservative treatment with wrist immobilization was administered, resulting in full recovery. The article discusses the rarity of trapezium fractures, their mechanisms of injury, diagnostic challenges, and treatment options. The use of imaging techniques such as CT and magnetic resonance imaging plays a crucial role in diagnosis, as they can detect fractures that may not be visible on plain X-rays. Early detection and treatment are essential to prevent complications such as arthritis, nonunion, and loss of thumb function. While there is no consensus on the optimal treatment approach, conservative management with immobilization or surgical interventions such as open reduction and internal fixation or closed reduction with pin placement are commonly used.
{"title":"Isolated Trapezium Fracture: A Rare and Challenging Diagnosis.","authors":"Jheniffer Rodrigues Cação, Márcio Luís Duarte","doi":"10.14712/23362936.2025.38","DOIUrl":"https://doi.org/10.14712/23362936.2025.38","url":null,"abstract":"<p><p>Isolated trapezium fractures are a rare type of injury, accounting for approximately 4% of all carpal fractures. Due to their nonspecific symptoms and difficulty in detection with conventional radiography, these fractures are often underdiagnosed. This case report details a 22-year-old male who sustained a trapezium fracture after a motorcycle accident. The patient presented with wrist pain and mild edema, but radiographs were normal. However, computed tomography (CT) revealed a small fracture in the dorsal portion of the trapezium. Conservative treatment with wrist immobilization was administered, resulting in full recovery. The article discusses the rarity of trapezium fractures, their mechanisms of injury, diagnostic challenges, and treatment options. The use of imaging techniques such as CT and magnetic resonance imaging plays a crucial role in diagnosis, as they can detect fractures that may not be visible on plain X-rays. Early detection and treatment are essential to prevent complications such as arthritis, nonunion, and loss of thumb function. While there is no consensus on the optimal treatment approach, conservative management with immobilization or surgical interventions such as open reduction and internal fixation or closed reduction with pin placement are commonly used.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 4","pages":"243-245"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145890311","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}
Pub Date : 2025-01-01DOI: 10.14712/23362936.2025.31
Camila Roza Gonçalves, Marcelo Palinkas, Gabriel Pádua da Silva, Robson Felipe Tosta Lopes, Edson Donizetti Verri, Isabella Cícero de Souza, Guilherme Gallo Costa Gomes, Evandro Marianetti Fioco, Selma Siéssere, Simone Cecilio Hallak Regalo
Stroke is a condition characterized by the sudden onset of clinical signs and symptoms, with persistent neurological deficits lasting more than twenty-four hours. This disease causes changes in cerebral blood circulation, impairing brain function either focally or globally. This observational study aimed to evaluate the respiratory function of subjects who suffered an ischemic or hemorrhagic stroke more than five years ago and compare them to a without neurological disorder group. Twenty-four subjects aged between 30 and 80 years participated, divided into two groups: stroke (n=12) and without neurological disorder (n=12). All analyses were conducted with a 5% significance level (Student's t-test). The results indicated that the stroke group showed significant changes compared to without neurological disorder group, including increased activity of respiratory and accessory muscles, as well as reduced respiratory muscle strength. However, spirometric evaluation did not reveal significant differences between the groups. The authors suggest that subjects with stroke exhibit neuromuscular deficits, with changes in the electromyographic activity of respiratory and accessory muscles, reduced respiratory muscle strength, and impaired lung volumes and capacities.
{"title":"Effects of Stroke on Electromyographic Activity, Respiratory Muscle Strength, and Pulmonary Function.","authors":"Camila Roza Gonçalves, Marcelo Palinkas, Gabriel Pádua da Silva, Robson Felipe Tosta Lopes, Edson Donizetti Verri, Isabella Cícero de Souza, Guilherme Gallo Costa Gomes, Evandro Marianetti Fioco, Selma Siéssere, Simone Cecilio Hallak Regalo","doi":"10.14712/23362936.2025.31","DOIUrl":"10.14712/23362936.2025.31","url":null,"abstract":"<p><p>Stroke is a condition characterized by the sudden onset of clinical signs and symptoms, with persistent neurological deficits lasting more than twenty-four hours. This disease causes changes in cerebral blood circulation, impairing brain function either focally or globally. This observational study aimed to evaluate the respiratory function of subjects who suffered an ischemic or hemorrhagic stroke more than five years ago and compare them to a without neurological disorder group. Twenty-four subjects aged between 30 and 80 years participated, divided into two groups: stroke (n=12) and without neurological disorder (n=12). All analyses were conducted with a 5% significance level (Student's t-test). The results indicated that the stroke group showed significant changes compared to without neurological disorder group, including increased activity of respiratory and accessory muscles, as well as reduced respiratory muscle strength. However, spirometric evaluation did not reveal significant differences between the groups. The authors suggest that subjects with stroke exhibit neuromuscular deficits, with changes in the electromyographic activity of respiratory and accessory muscles, reduced respiratory muscle strength, and impaired lung volumes and capacities.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 4","pages":"193-200"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145890279","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}
Pub Date : 2025-01-01DOI: 10.14712/23362936.2025.19
Ronaldo Celio Mariano, Geraldo Alves Villela Junior, Pedro Henrique Moraes de Menezes, Sabrina Ferreira
A buccosinusal fistula consists of a permanent communication between the oral cavity and the sinus. For the treatment of this complication, three modalities can be highlighted: sliding of the vestibular flap, palatal flap, or graft of cheek adipose tissue. Each of these treatment forms has disadvantages, which led to the development of the zetaplasty technique. Patient C.M., a 57-years-old male, sought the Surgery Clinic of the Federal University of Alfenas for the treatment of a broad buccosinusal communication. After anesthesia, a perilesional incision followed by an extended incision anteriorly to expose the alveolar ridge for regularization. Additional relief incisions were executed to mobilize the vestibular and palatal flaps. The proposed technique aims to obtain relief incisions in the vestibular and palatal areas from the freshened wound margins, allowing the sliding of the flaps in the zetaplasty technique. There has been no need for surgical re-intervention up to the present moment.
{"title":"Adequacy of the Zetaplasty Technique for Closing Extensive Oroantral Communication.","authors":"Ronaldo Celio Mariano, Geraldo Alves Villela Junior, Pedro Henrique Moraes de Menezes, Sabrina Ferreira","doi":"10.14712/23362936.2025.19","DOIUrl":"https://doi.org/10.14712/23362936.2025.19","url":null,"abstract":"<p><p>A buccosinusal fistula consists of a permanent communication between the oral cavity and the sinus. For the treatment of this complication, three modalities can be highlighted: sliding of the vestibular flap, palatal flap, or graft of cheek adipose tissue. Each of these treatment forms has disadvantages, which led to the development of the zetaplasty technique. Patient C.M., a 57-years-old male, sought the Surgery Clinic of the Federal University of Alfenas for the treatment of a broad buccosinusal communication. After anesthesia, a perilesional incision followed by an extended incision anteriorly to expose the alveolar ridge for regularization. Additional relief incisions were executed to mobilize the vestibular and palatal flaps. The proposed technique aims to obtain relief incisions in the vestibular and palatal areas from the freshened wound margins, allowing the sliding of the flaps in the zetaplasty technique. There has been no need for surgical re-intervention up to the present moment.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 2","pages":"111-116"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650760","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 study aims to analyse new methods in the treatment and diagnosis of cancer, as the prevalence of cancer has been growing rapidly over the past 10 years. This study examined and investigated the implementation of novel approaches in molecular diagnostics, precision medicine (focusing on the genetic and molecular characteristics of cancer), immunotherapy (including immune checkpoint inhibitors), radiation therapy (such as intensity-modulated radiation therapy, CyberKnife, brachytherapy, and proton therapy), nanotechnology, tissue engineering, and the application of artificial intelligence. According to the results of the study, it is worth noting that the use of these diagnostic and treatment methods has significant potential in the field of oncology. For example, molecular diagnostics can detect mutations in the cancer process and optimise treatment. Kosovo is actively considering the use of molecular biomarkers to inhibit cell growth, and Albania has introduced a new molecular classification that helps to predict the occurrence of complications. Genetic research in Kyrgyz Republic is studying the impact on the immune system of the tumour, apoptosis and treatment prognosis. Albania is also making parallels in the immune system of pregnancy and endometrial cancer to predict abnormal pregnancy and find new methods of cancer diagnosis and treatment. The problem of this study is the lack of empirical, clinical research and testing, and the toxicity of some diagnostic and treatment methods. Further research should focus on developing new methods of cancer treatment and diagnosis, as well as optimising and improving existing methods through empirical and clinical trials.
{"title":"Modern Trends in Cancer Diagnosis and Treatment: Innovative Aspects.","authors":"Altin Goxharaj, Kushtrim Salihu, Chinara Zhylkichieva, Aigul Matkeeva, Maral Turdumatova","doi":"10.14712/23362936.2025.11","DOIUrl":"https://doi.org/10.14712/23362936.2025.11","url":null,"abstract":"<p><p>The study aims to analyse new methods in the treatment and diagnosis of cancer, as the prevalence of cancer has been growing rapidly over the past 10 years. This study examined and investigated the implementation of novel approaches in molecular diagnostics, precision medicine (focusing on the genetic and molecular characteristics of cancer), immunotherapy (including immune checkpoint inhibitors), radiation therapy (such as intensity-modulated radiation therapy, CyberKnife, brachytherapy, and proton therapy), nanotechnology, tissue engineering, and the application of artificial intelligence. According to the results of the study, it is worth noting that the use of these diagnostic and treatment methods has significant potential in the field of oncology. For example, molecular diagnostics can detect mutations in the cancer process and optimise treatment. Kosovo is actively considering the use of molecular biomarkers to inhibit cell growth, and Albania has introduced a new molecular classification that helps to predict the occurrence of complications. Genetic research in Kyrgyz Republic is studying the impact on the immune system of the tumour, apoptosis and treatment prognosis. Albania is also making parallels in the immune system of pregnancy and endometrial cancer to predict abnormal pregnancy and find new methods of cancer diagnosis and treatment. The problem of this study is the lack of empirical, clinical research and testing, and the toxicity of some diagnostic and treatment methods. Further research should focus on developing new methods of cancer treatment and diagnosis, as well as optimising and improving existing methods through empirical and clinical trials.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 2","pages":"63-74"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650776","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}
Pub Date : 2025-01-01DOI: 10.14712/23362936.2025.4
Hüseyin Döngelli, Baver Kızartıcı, Mustafa Oktay Tarhan, Ebru Özpelit, Osman Nejat Sarıosmanoğlu, Hatice Kübra Taşçı
Infective endocarditis (IE) is a life-threatening disease, with its mortality rate varying depending on the infectious agent. Streptococci are among the most common causes of infective endocarditis. However, Streptococcus vestibularis has rarely been associated with human infections, typically affecting patients with underlying conditions such as immunosuppressive diseases, valve replacement, rheumatic heart disease, and hemodialysis. We present the case of a 26-year-old man who presented with fever, unanticipated weight loss, and fatigue. Although no typical risk factors for infective endocarditis were identified at admission, transesophageal echocardiography revealed a bicuspid aortic valve with calcification, paravalvular aortic abscess formation, and vegetations on the anterior leaflet of the mitral valve. Blood cultures grew S. vestibularis, which was initially sensitive to benzylpenicillin but developed emergent resistance on the third day of the antibiotic treatment. Subsequently, ceftriaxone therapy was initiated, and blood cultures became sterile on day 10. The patient eventually underwent aortic valve replacement. We report the first known case of native aortic and mitral valve endocarditis caused by S. vestibularis, accompanied by a paravalvular abscess around the native aortic valve, in a patient who had no typical risk factors for infective endocarditis, except for a bicuspid aortic valve.
{"title":"An Infective Endocarditis Case Report Involving Both Native Aortic and Mitral Valves Due to Streptococcus Vestibularis.","authors":"Hüseyin Döngelli, Baver Kızartıcı, Mustafa Oktay Tarhan, Ebru Özpelit, Osman Nejat Sarıosmanoğlu, Hatice Kübra Taşçı","doi":"10.14712/23362936.2025.4","DOIUrl":"10.14712/23362936.2025.4","url":null,"abstract":"<p><p>Infective endocarditis (IE) is a life-threatening disease, with its mortality rate varying depending on the infectious agent. Streptococci are among the most common causes of infective endocarditis. However, Streptococcus vestibularis has rarely been associated with human infections, typically affecting patients with underlying conditions such as immunosuppressive diseases, valve replacement, rheumatic heart disease, and hemodialysis. We present the case of a 26-year-old man who presented with fever, unanticipated weight loss, and fatigue. Although no typical risk factors for infective endocarditis were identified at admission, transesophageal echocardiography revealed a bicuspid aortic valve with calcification, paravalvular aortic abscess formation, and vegetations on the anterior leaflet of the mitral valve. Blood cultures grew S. vestibularis, which was initially sensitive to benzylpenicillin but developed emergent resistance on the third day of the antibiotic treatment. Subsequently, ceftriaxone therapy was initiated, and blood cultures became sterile on day 10. The patient eventually underwent aortic valve replacement. We report the first known case of native aortic and mitral valve endocarditis caused by S. vestibularis, accompanied by a paravalvular abscess around the native aortic valve, in a patient who had no typical risk factors for infective endocarditis, except for a bicuspid aortic valve.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 1","pages":"26-29"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538064","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}
Melnick-Needles syndrome (MNS) is a rare X-linked dominant skeletal dysplasia caused by pathogenic FLNA variants, primarily affecting females due to male lethality. Characterised by severe craniofacial and skeletal abnormalities, MNS exhibits marked phenotypic variability influenced by skewed X-inactivation, somatic mosaicism, and variant-specific functional consequences. Recent advances in next-generation sequencing and ACMG-based variant classification have refined diagnosis, particularly for pathogenic variants in exon 22, yet genotype-phenotype correlations remain incompletely defined. Differential diagnosis within the otopalatodigital spectrum, including OPD1, OPD2, and Frank-Ter Haar syndrome, remains challenging due to overlapping features, necessitating comprehensive radiological and molecular evaluation. Clinical manifestations span craniofacial dysmorphism, thoracic hypoplasia, respiratory compromise, and multisystem involvement. Management requires interdisciplinary coordination encompassing respiratory support, orthognathic surgery, dental reconstruction, and monitoring for complications such as glaucoma and psychiatric comorbidities. Evidence for the use of recombinant human bone morphogenetic protein-2 (rhBMP-2) and mandibular distraction techniques highlights surgical adaptability, though altered bone metabolism in MNS necessitates modified approaches. Rare associations with periventricular nodular heterotopia and bipolar disorder suggest a broader neurodevelopmental impact of FLNA dysfunction. Despite expanding clinical insight, the rarity of MNS limits population-level studies, constraining understanding of natural history and long-term outcomes. Future research must prioritise elucidating modifier genes, therapeutic targets such as antisense oligonucleotides, and prenatal detection strategies. A synthesis of genetic, clinical, and surgical domains is essential to optimise care pathways, improve prognosis, and inform genetic counselling for families affected by this phenotypically diverse and medically complex disorder.
{"title":"Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.","authors":"Vinod Kumar Mugada, Praveena Guntupalli, Vijaya Gudaparthi, Saritha Medapati, Srinivasa Rao Yarguntla","doi":"10.14712/23362936.2025.30","DOIUrl":"https://doi.org/10.14712/23362936.2025.30","url":null,"abstract":"<p><p>Melnick-Needles syndrome (MNS) is a rare X-linked dominant skeletal dysplasia caused by pathogenic FLNA variants, primarily affecting females due to male lethality. Characterised by severe craniofacial and skeletal abnormalities, MNS exhibits marked phenotypic variability influenced by skewed X-inactivation, somatic mosaicism, and variant-specific functional consequences. Recent advances in next-generation sequencing and ACMG-based variant classification have refined diagnosis, particularly for pathogenic variants in exon 22, yet genotype-phenotype correlations remain incompletely defined. Differential diagnosis within the otopalatodigital spectrum, including OPD1, OPD2, and Frank-Ter Haar syndrome, remains challenging due to overlapping features, necessitating comprehensive radiological and molecular evaluation. Clinical manifestations span craniofacial dysmorphism, thoracic hypoplasia, respiratory compromise, and multisystem involvement. Management requires interdisciplinary coordination encompassing respiratory support, orthognathic surgery, dental reconstruction, and monitoring for complications such as glaucoma and psychiatric comorbidities. Evidence for the use of recombinant human bone morphogenetic protein-2 (rhBMP-2) and mandibular distraction techniques highlights surgical adaptability, though altered bone metabolism in MNS necessitates modified approaches. Rare associations with periventricular nodular heterotopia and bipolar disorder suggest a broader neurodevelopmental impact of FLNA dysfunction. Despite expanding clinical insight, the rarity of MNS limits population-level studies, constraining understanding of natural history and long-term outcomes. Future research must prioritise elucidating modifier genes, therapeutic targets such as antisense oligonucleotides, and prenatal detection strategies. A synthesis of genetic, clinical, and surgical domains is essential to optimise care pathways, improve prognosis, and inform genetic counselling for families affected by this phenotypically diverse and medically complex disorder.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 4","pages":"183-192"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145890228","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}
Pub Date : 2025-01-01DOI: 10.14712/23362936.2025.26
Ariff Aizzat Abdul Razak, Wan Mohd Saifuhisam Wan Zain, Wan Azman Wan Norlina
Factitiously low total creatine kinase (CK) activity can occur in severe rhabdomyolysis, potentially causing misdiagnosis and inappropriate patient management. We hereby describe 2 cases of severe rhabdomyolysis with falsely low total CK activity. Case 1 was a 61-year-old lady with underlying diabetes mellitus diagnosed with severe rhabdomyolysis secondary to severe pneumonia. Case 2 was a 77-year-old man with underlying diabetes mellitus diagnosed with severe rhabdomyolysis secondary to recurrent pyogenic spondylodiscitis. Both cases showed unexpectedly low total CK activity (<7 U/l N: 26-192 U/l). Post-dilution procedures showed markedly elevated total CK activity for case 1 (18,364 U/l [1:11]) and case 2 (15,217 U/l [1:11]). Unfortunately, both patients succumbed despite optimized medical treatment due to multi-organ failures. Measurement of CK in blood is considered as a diagnostic marker for rhabdomyolysis and its severity. Most of the laboratory nowadays measures total CK activity using enzymatic coupled with spectrophotometry method. However, substrate depletion can occur in severe rhabdomyolysis in which creatine phosphate is consumed by high concentration of CK in sample before the kinetic measurement is initiated, leading to factitiously low total CK activity. Sample dilution can be done to obtain the accurate total CK activity, avoiding result reporting error and possibility misdiagnosis of rhabdomyolysis. Good communication between clinical and laboratory personnel is vital to prevent the error and safeguard patient management.
{"title":"Factitiously Low Total Creatine Kinase Activity in Severe Rhabdomyolysis: A Case Series.","authors":"Ariff Aizzat Abdul Razak, Wan Mohd Saifuhisam Wan Zain, Wan Azman Wan Norlina","doi":"10.14712/23362936.2025.26","DOIUrl":"https://doi.org/10.14712/23362936.2025.26","url":null,"abstract":"<p><p>Factitiously low total creatine kinase (CK) activity can occur in severe rhabdomyolysis, potentially causing misdiagnosis and inappropriate patient management. We hereby describe 2 cases of severe rhabdomyolysis with falsely low total CK activity. Case 1 was a 61-year-old lady with underlying diabetes mellitus diagnosed with severe rhabdomyolysis secondary to severe pneumonia. Case 2 was a 77-year-old man with underlying diabetes mellitus diagnosed with severe rhabdomyolysis secondary to recurrent pyogenic spondylodiscitis. Both cases showed unexpectedly low total CK activity (<7 U/l N: 26-192 U/l). Post-dilution procedures showed markedly elevated total CK activity for case 1 (18,364 U/l [1:11]) and case 2 (15,217 U/l [1:11]). Unfortunately, both patients succumbed despite optimized medical treatment due to multi-organ failures. Measurement of CK in blood is considered as a diagnostic marker for rhabdomyolysis and its severity. Most of the laboratory nowadays measures total CK activity using enzymatic coupled with spectrophotometry method. However, substrate depletion can occur in severe rhabdomyolysis in which creatine phosphate is consumed by high concentration of CK in sample before the kinetic measurement is initiated, leading to factitiously low total CK activity. Sample dilution can be done to obtain the accurate total CK activity, avoiding result reporting error and possibility misdiagnosis of rhabdomyolysis. Good communication between clinical and laboratory personnel is vital to prevent the error and safeguard patient management.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 3","pages":"162-166"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145087565","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}
Pub Date : 2024-01-01DOI: 10.14712/23362936.2024.22
Pedro Henrique Moraes de Menezes, Maria Clara Corrêa de Almeida Teixeira, Cleone de Fátima Oliveira Neder Fernandes, Marden Oliveira Bastos, Marina Reis Oliveira, Ronaldo Celio Mariano
The correct diagnosis is fundamental for the appropriate treatment to be employed in a particular pathology. The best treatment is not the one that solves only local problems, fragmenting the patient, and therefore, it is necessary to integrate the entire systemic condition of the individual before initiating any local treatment. This context inevitably requires dentistry to participate in a multidisciplinary approach, where the role of the dentist is expanded in concepts that encompass ethics, human dignity, and professional valorization. This article describes a clinical case of a patient with mucopolysaccharidosis type I, whose treatment of cystic lesions present in the mandible was exclusively performed through marsupialisation. The objective of this study is to demonstrate, within the complexity of this rare syndrome, the difficulties of diagnosis and the need for evaluation of the patient beyond the limits of the oral cavity, as well as to report two cases of large dentigerous cysts, surgically treated conservatively through marsupialisation, without the need for re-approach for enucleation and without recurrences over a 20-year period.
正确的诊断是对特定病症采取适当治疗的基础。最好的治疗方法并不是只解决局部问题、使病人支离破碎的治疗方法,因此,在开始任何局部治疗之前,有必要综合考虑个人的整个系统状况。在这种情况下,牙科不可避免地需要参与到多学科的治疗方法中,牙医的角色在包含伦理、人类尊严和专业价值的概念中得到了扩展。本文描述了一例 I 型粘多糖病患者的临床病例,该患者的下颌骨囊性病变完全是通过髓鞘化术进行治疗的。本研究的目的是证明这种罕见综合征的复杂性、诊断的困难性以及对患者进行口腔范围以外评估的必要性,并报告两例通过髓内埋植术进行保守治疗的巨大齿槽囊肿病例,患者在 20 年的时间里无需再次进行髓内埋植术,也没有复发。
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