Clinics and Practice最新文献

{"title":"Clinical Features of Dermatomyositis Associated with Myositis-Specific Antibodies in Moroccan Patients.","authors":"Milouda Chihi, Leila Barakat, Fatima Zahra Benhayoun, Abire Allaoui, Samy Housbane, Mina Moudatir, Fouzia Hali, Ahmed Aziz Bousfiha, Jalila El Bakkouri","doi":"10.3390/clinpract15020031","DOIUrl":"10.3390/clinpract15020031","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Dermatomyositis (DM) is a rare idiopathic inflammatory myopathy characterized by muscle weakness and typical cutaneous rash. Dermatomyositis-specific antibodies, such as anti-TIF1γ, anti-SAE, anti-Mi2, anti-MDA5, and anti-NXP2, have been associated with specific clinical phenotypes. Our study aimed to describe the clinical profile of Moroccan patients with DM and clinical associations with myositis-specific antibodies. <b>Methods:</b> We recruited 54 adult patients with DM according to the Bohan and Peter criteria, admitted to the internal medicine and dermatology departments of the University Hospital Center Ibn Rochd of Casablanca from January 2020 to December 2023. Testing for myositis-specific autoantibodies (MSAs) was conducted using an Immunodot assay. Statistical analysis was performed using the Chi-square test. <b>Results:</b> Among our patients, 74% were female. The mean age of the patients at the time of diagnosis was 45.8 years (±12.95 years). The main clinical manifestations were a V-neck sign (70.4%), myalgia (70.4%), Gottron's papules (68.5%), heliotrope rash (63%), arthritis/arthralgia (48.1%), proximal muscle weakness (68.5%), periungual erythema (46.3%), and dysphagia (59.3%). Of the 54 patients, 37 (68.5%) showed dermatomyositis-specific antibody positivity. The most frequently found autoantibody was anti-Mi2 (22.2%), followed by anti-TIF1γ (14.8%), anti-NXP2 (9.2%), anti-MDA5 (7.4%), and anti-SAE (7.4%). The association between clinical manifestations and MSAs showed that anti-TIF1γ antibodies were associated with the V-neck sign (<i>p</i> < 0.05), and the MSA-negative group was protected from periungual erythema (<i>p</i> < 0.05). No other significant association was found. <b>Conclusions:</b> This study shows the autoantibody profile of Moroccan patients with DM and the associations of MSAs with clinical manifestations.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11853990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143493975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Patient Acceptance and Caregiver Satisfaction of Glass-Ionomer Cement vs. Silver Fluoride/Potassium Iodide Application to Manage Molar Incisor Hypomineralisation Hypersensitivity Immediately and After 12 Weeks.","authors":"Ramiar Karim, Walaa Ahmed, Mohamed Baider, Christian H Splieth, Julian Schmoeckel","doi":"10.3390/clinpract15020029","DOIUrl":"10.3390/clinpract15020029","url":null,"abstract":"<p><p><b>Aim:</b> To compare caregiver satisfaction and children's acceptance of silver fluoride/potassium iodide (AgF + KI) treatment (Riva Star Aqua^®, SDI Limited, Victoria, Australia) and glass-ionomer cement (GIC) application (Ionostar Plus + Easy Glaze, VOCO, Germany) in reducing hypersensitivity in permanent molars affected by molar incisor hypomineralisation (MIH) with the MIH treatment need index (MIH-TNI) 3 and 4 immediately after its application and after 12 weeks. <b>Materials and Methods:</b> This prospective, comparative, clinical study recruited schoolchildren with at least one hypersensitive MIH molar with a Schiff cold air sensitivity score (SCASS) of 2 and 3. Caregivers in both groups (AgF + KI and GIC + glaze) answered a questionnaire (5-Point Likert Scale) regarding the perception of the treatment immediately (15 min post application) and in the 12 weeks follow-up. Children's behaviour during both applications was assessed using FBRS (Frankl Behaviour Rating Scale). <b>Results:</b> A total number of 47 children (n = 22 for AgF/KI and n = 25 for GIC) with a mean age of 8.6 ± 1.42 were recruited. A high proportion of the children in both arms (n = 40 out of 44; 90.1%) reported a reduction in hypersensitivity in the last 12 weeks. On average, children (n = 39; FBRS ≥ 3) in both groups showed positive behaviour, with a significantly more definitely positive behaviour in the GIC group (<i>p</i> < 0.05, independent student <i>t</i>-test). Caregiver satisfaction with both study procedures was high after immediate assessment (n = 19 out of 22, 86.4% for AgF/KI and n = 19 out of 25, 76.0% for GIC application) and in 12 weeks of follow-up (n = 17 out of 20, 85.0% for AgF/KI and n = 22 out of 24, 91.6% for GIC application). However, the taste AgF/KI is more frequently considered not acceptable for the child (n = 10; 45%) than smell (n = 2; 9%). Interestingly, there was a statistically significant difference in caregivers' preference toward alternative desensitisation treatment (tooth restoration coverage, desensitisation paste, stainless steel crown and fluoride varnish) in both treatment groups (<i>p</i> < 0.05, Mann-Whitney U test). <b>Conclusions:</b> Both GIC and AgF/KI applications can be considered acceptable approaches to reduce hypersensitivity in permanent molars affected by MIH both immediately and in long-term follow-up for schoolchildren based on caregivers' assessments.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Addressing Rotator Cuff-Related Shoulder Pain: Findings from a Greek Regional Observational Study Utilizing a Clinical Case Scenario.","authors":"Eleftherios Paraskevopoulos, Anna Christakou, Andrew Smythe, Eleni Kapreli, Maria Papandreou, Charalambos Papacharalambous, Kyriakos Pavlou, George M Pamboris","doi":"10.3390/clinpract15020030","DOIUrl":"10.3390/clinpract15020030","url":null,"abstract":"<p><p><b>Background</b>: Rotator cuff-related shoulder pain (RCRSP) is a prevalent musculoskeletal issue, encompassing various shoulder conditions. While exercise typically forms the foundation of conservative treatment, there exists ongoing discourse regarding the effectiveness and role of passive treatments. International guidelines recommend initial conservative management, with surgery considered only after failed conservative treatment. However, recent studies reveal discrepancies between recommended practices and actual clinical management. The aim of the study was to assess current practices in managing RCRSP among Greek physiotherapists, with a focus on understanding the alignment of these practices with international guidelines for conservative treatment. <b>Methods</b>: A cross-sectional survey was conducted among Greek physiotherapists to assess current practices in managing RCRSP. The survey, adapted from previous studies, collected demographic data and assessed clinical reasoning through a vignette-based approach. Responses were analyzed for alignment with guideline-recommended care. <b>Results</b>: Out of over 9000 contacted physiotherapists, 163 responded. A majority expressed a specific interest in shoulder pain (85%). Patient education (100%) and exercise (100%) were widely endorsed, with limited support for imaging (44%), injection (40%), and surgery (26%). Younger respondents were less inclined towards surgical referral (<i>p</i> = 0.001). Additionally, adjunctive interventions like mobilization (66%) and massage therapy (58%) were commonly employed alongside exercise and education. Treatment duration typically ranged from 6 to 8 weeks, with exercises reviewed weekly. <b>Conclusions</b>: The study highlights a consistent preference for conservative management among Greek physiotherapists, aligning with international guidelines. However, there are variations in practice, particularly regarding adjunctive interventions and exercise prescription parameters. Notably, there is a disparity between recommended and actual use of certain modalities.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11853849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Collagen Injections for Rotator Cuff Diseases: A Systematic Review.","authors":"Rocco Aicale, Eugenio Savarese, Rosita Mottola, Bruno Corrado, Felice Sirico, Raffaello Pellegrino, Danilo Donati, Roberto Tedeschi, Luca Ruosi, Domiziano Tarantino","doi":"10.3390/clinpract15020028","DOIUrl":"10.3390/clinpract15020028","url":null,"abstract":"<p><strong>Background: </strong>Because of its anatomy and function, the rotator cuff (RC) is vulnerable to considerable morbidity. The prevalence of RC diseases (RCDs) among the general population is 5-39%, reaching over 30% in patients older than 60. The aim of the present systematic review is to investigate the effects of the use of collagen injections in the treatment of RCDs.</p><p><strong>Methods: </strong>A systematic search of scientific electronic databases (such as PubMed, Scopus and Web of Science) was performed up to November 2024, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Two independent authors conducted the search and assessed the articles. The inter-rater reliability for the quality assessment was measured using Cohen's kappa coefficient, while the Modified Coleman Methodology Score (CMS) was applied to evaluate the methodological quality of the articles included in this systematic review.</p><p><strong>Results: </strong>A total of eight articles were included, with the overall quality of the included articles being evaluated as fair. Despite the use of different types of collagen and injection protocols, as well as the different scores applied, each included study showed clinically relevant improvements. However, given the high degree of heterogeneity of the included studies, we cannot draw conclusions regarding which type of collagen and injection protocol are best for RCD treatment.</p><p><strong>Discussion: </strong>Collagen administration for RCDs seems to be effective at reducing pain and improving function, as well as the tendon structure, especially in partial tears and RC tendinopathy. High-quality, prospective studies with long-term follow-up are necessary to validate the findings of the articles included in this systematic review.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854470/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Etonogestrel Subdermal Implant in Adolescents: Everything We Should Know to Conduct Proper Counseling, a Narrative Review.","authors":"Alessandro Messina, Safae Elmotarajji, Eleonora Dalmasso, Costanza Valentini, Valentino Remorgida, Livio Leo, Alessandro Libretti, Bianca Masturzo","doi":"10.3390/clinpract15020027","DOIUrl":"10.3390/clinpract15020027","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Comprehensive sexual education and access to contraceptives play a vital role in alleviating the economic, health, and social challenges associated with unplanned pregnancies in adolescents. According to the World Health Organization (WHO), adolescence refers to the transitional stage from childhood to adulthood, encompassing individuals aged 10 to 19. This period is critical for reproductive decision making, making it essential to closely observe patterns of sexual activity and contraceptive use among young people. Despite advancements, many adolescents still encounter significant barriers to accessing and effectively utilizing contraceptive methods. <b>Methods</b>: A bibliographic search was performed across three major biomedical databases: PubMed, Embase, and CINAHL. The research question was developed utilizing the PIO (Population, Intervention, Outcome) framework to guide the investigation. <b>Results</b>: Long-acting reversible contraceptives (LARCs), including the etonogestrel (ENG) implant, have been recognized for their ability to significantly reduce maternal and neonatal mortality and morbidity as well as decrease the incidence of unsafe abortions. <b>Conclusions</b>: Access to adequate counseling and effective contraceptive services can profoundly impact young people's lives, preventing unplanned pregnancies and promoting optimal sexual and reproductive health.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Readability of Informed Consent Forms for Medical and Surgical Clinical Procedures: A Systematic Review.","authors":"José Manuel García-Álvarez, Alfonso García-Sánchez","doi":"10.3390/clinpract15020026","DOIUrl":"10.3390/clinpract15020026","url":null,"abstract":"<p><p><b>Background/Objectives</b>: The wording of informed consent forms for medical or surgical clinical procedures can be difficult to read and comprehend, making it difficult for patients to make decisions. The objective of this study was to analyze the readability of informed consent forms for medical or surgical clinical procedures. <b>Methods</b>: A systematic review was performed according to the PRISMA statement using PubMed, Embase, and Google Scholar databases. Primary studies analyzing the readability of informed consent forms using mathematical formulas published in any country or language during the last 10 years were selected. The results were synthesized according to the degree of reading difficulty to allow for the comparison of the studies. Study selection was performed independently by the reviewers to avoid the risk of selection bias. <b>Results</b>: Of the 664 studies identified, 26 studies were selected that analyzed the legibility of 13,940 forms. Of these forms, 76.3% had poor readability. Of the six languages analyzed, only English, Spanish, and Turkish had adapted readability indexes. Flesch Reading Ease was the most widely used readability index, although it would be more reliable to use language-specific indices. <b>Conclusions</b>: Most of the analyzed informed consent forms had poor readability, which made them difficult for a large percentage of patients to read and comprehend. It is necessary to modify these forms to make them easier to read and comprehend, to adapt them to each specific language, and to carry out qualitative studies to find out the real legibility of each specific population.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Placenta Praevia with Abnormal Adhesion-A Retrospective Study.","authors":"Lucian Șerbănescu, Dragoș Brezeanu, Cătălin Nicolae Grasa, Sebastian Mirea, Paris Ionescu, Vadym Rotar, Traian-Virgiliu Surdu, Andreea Cristina Costea","doi":"10.3390/clinpract15020023","DOIUrl":"10.3390/clinpract15020023","url":null,"abstract":"<p><p><b>Background:</b> Placenta accreta spectrum (PAS) refers to abnormal placental attachment, categorized into placenta accreta, increta, and percreta, with varying severity. The incidence of PAS has risen alongside the increasing rate of caesarean sections. PAS is a significant cause of maternal complications, including bleeding, hysterectomies of necessity and intestinal or urinary surgical complications, and of foetal complications, preterm birth or foetal anaemia. Early diagnosis is crucial for its management and for improving its outcomes. <b>Materials and Methods:</b> This retrospective study, conducted at the County Emergency Clinical Hospital \"Saint Andrew the Apostle\", Constanța, analysed cases of placenta praevia and PAS from 2018 to 2022. Data were collected from observation sheets and operative protocols, involving 13,841 patients. Placenta praevia and PAS were diagnosed using ultrasound and MRI and confirmed by histopathology. <b>Results:</b> Among the 13,841 deliveries, 25 cases of placenta praevia (0.82% incidence) and 17 cases of PAS (0.57% incidence) were identified. Ultrasound demonstrated 88% sensitivity, and MRI 94% sensitivity for PAS detection. Of the 17 PAS cases, 11 were diagnosed as placenta accreta, 3 were diagnosed as placenta increta, and 3 as placenta percreta, with all percreta cases involving bladder invasion. Hysterectomy was the standard surgical treatment. <b>Discussion:</b> The risk factors for PAS included previous caesarean sections (94.1% of PAS cases), smoking, and uterine fibroids. The study confirmed the importance of early imaging and the involvement of a multidisciplinary team in managing PAS, particularly in complex cases with bladder involvement. Caesarean section followed by hysterectomy was the preferred surgical approach. <b>Conclusions:</b> Smoking, uterine scars, and uterine fibroids are significant risk factors for placenta praevia with pathological adhesion. Ultrasound and MRI are highly accurate in diagnosing PAS, with histopathology providing definitive confirmation. Multidisciplinary care is essential in managing complex cases, ensuring optimal maternal and foetal outcomes. The surgical treatment involves caesarean section and hysterectomy, with additional interventions for bladder invasion in percreta cases.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11853744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the Health Literacy and Patient Activation Among Patients with Glaucoma: A Cross-Sectional Study.","authors":"Lοukia Tsichla, Evridiki Patelarou, Efstathios Detorakis, Miltiadis Tsilibaris, Athina Patelarou, Antonios Christodoulakis, Eleni Dokoutsidou, Konstantinos Giakoumidakis","doi":"10.3390/clinpract15020024","DOIUrl":"10.3390/clinpract15020024","url":null,"abstract":"<p><p><b>Background:</b> Glaucoma is one of the leading causes of blindness that can be mitigated through early recognition and effective management. Specifically, early and effective self-management outside hospitals can slow disease progression and reduce its negative daily impact. This includes adherence to medication, high levels of health literacy (requires patients to be able to find, understand, and use relevant health information), early recognition of symptoms, regular visits to ophthalmologists, etc. However, there is a lack of empirical evidence regarding levels of adherence to medication and health literacy in glaucoma patients in Greece. This study aimed to assess health literacy and self-management activation levels in glaucoma patients and explore the relationship between these factors. <b>Materials and Methods:</b> A total of 312 glaucoma patients were recruited from outpatient ophthalmology clinics in Heraklion, Greece, between November 2023 and May 2024 through convenience sampling. The Greek versions of the Patient Activation Measure-13 (PAM-13) and the European Health Literacy Survey Questionnaire 16 (HLS-EU-16) evaluated self-management activation and health literacy, respectively. <b>Results:</b> Patients exhibited low self-management activation (level 1: disengaged and overwhelmed, =40.7, SD: ±29.9) and sufficient health literacy (=10.7, SD: ±3.7). No significant association was found between health literacy and self-management activation (<i>p</i> = 0.602). <b>Conclusions:</b> Glaucoma patients had low to moderate levels of self-management activation and health literacy, without a significant association between them. Therefore, multifaceted strategies are needed to enhance these patients' activation and health literacy. Further research, using larger, multi-center samples, is needed to clarify the link between these variables.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11853808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C-Reactive Protein, International Normalized Ratio, and Fibrinogen in Diagnostic Scale of Complicated Acute Appendicitis.","authors":"Leticia Lorena Hernández-González, Said José Serrano-Guzmán, Jesús David Guzmán-Ortiz, Hermelo Esteban Pérez-Ceballos, José Luis Cano-Pérez, Víctor Cruz-Hernández, Héctor Ulises Bernardino-Hernández, Lucía Lourdes Martínez-Martínez, Sergio Roberto Aguilar-Ruiz","doi":"10.3390/clinpract15020025","DOIUrl":"10.3390/clinpract15020025","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Differentiating complicated acute appendicitis (CA) and uncomplicated acute appendicitis (UC) is essential to guide clinical management. While CA requires urgent surgical management, UC can be treated with antibiotic therapy in selected cases. However, accurate identification of CA remains a clinical challenge. This study aimed to identify factors associated with CA and to develop a diagnostic severity scale. <b>Methods:</b> In this retrospective study, we included 132 adult patients (>16 years) with a confirmed postsurgical diagnosis of appendicitis, of whom 52 had CA and 80 had UA. Signs, symptoms, comorbidities, laboratory values, and ultrasonographic findings were evaluated to determine predictive factors and construct a diagnostic scale. <b>Results:</b> The factors most significantly associated with CA were elevated plasma concentrations of C-reactive protein (>7.150 mg/dL), fibrinogen (481.5 mg/dL), International Normalized Ratio (INR) (>1.150), and the presence of free fluid periappendicular. The combination of these factors within one scale showed an area under the curve (AUC) of 0.84, with a sensitivity of 78.75% and a specificity of 82.69%. <b>Conclusions:</b> Serum C-reactive protein concentration, fibrinogen, and INR can be employed individually or as part of a scale as important indicators in diagnosing CA.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11853847/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome.","authors":"Ulf Nestler, Daniel Gräfe, Vincent Strehlow, Robin-Tobias Jauss, Andreas Merkenschlager, Annika Schönfeld, Florian Wilhelmy","doi":"10.3390/clinpract15010022","DOIUrl":"10.3390/clinpract15010022","url":null,"abstract":"<p><p><b>Background</b>: PTEN hamartoma tumor syndrome (PHTS) has evolved into an umbrella term for a range of syndromes, characterized by loss-of-function variants in the phosphatase and tensin homolog (PTEN) tumor suppressor gene on chromosome 10q23.31. This can result in a lifelong tumor predisposition in patients. Often, the syndrome is diagnosed in early childhood because of macrocephaly, dermatological findings, or development delay. Since the correlation between phenotype and genotype is weak, and the penetrance is age-dependent, this poses the question of the appropriate timing of potentially invasive and burdensome examinations for early cancer detection. <b>Case</b>: The present report describes an infant with cleft palate associated with PHTS, a rare occurrence, though the initial report of Cowden syndrome already pointed to oromaxillofacial abnormalities. The recent pediatric literature is reviewed to assess which clinical symptoms should raise suspicion of PHTS and may then lead to early genetic counseling. <b>Conclusion</b>: Since the amount of prospective data remains limited, and the estimation of tumor risk during infancy and adulthood is very difficult, we advocate for early and broad genetic testing in suspected cases, to gain more insights into this rare disease and allow for better counseling for patients and their families.</p>","PeriodicalId":45306,"journal":{"name":"Clinics and Practice","volume":"15 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}