Acta bio-medica : Atenei Parmensis最新文献

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Early venous congestion after diep flap breast reconstruction: case report of a successful management. 蝶形皮瓣乳房重建术后早期静脉充血:一例成功治疗的病例报告。
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-07 DOI: 10.23750/abm.v93iS1.12898
Alessio Baccarani, Marta Starnoni, Marco Pappalardo, Melba Lattanzi, Claudio Gio Francesco Blessent, Federico De Maria, Giorgio De Santis
{"title":"Early venous congestion after diep flap breast reconstruction: case report of a successful management.","authors":"Alessio Baccarani,&nbsp;Marta Starnoni,&nbsp;Marco Pappalardo,&nbsp;Melba Lattanzi,&nbsp;Claudio Gio Francesco Blessent,&nbsp;Federico De Maria,&nbsp;Giorgio De Santis","doi":"10.23750/abm.v93iS1.12898","DOIUrl":"https://doi.org/10.23750/abm.v93iS1.12898","url":null,"abstract":"<p><strong>Background and aim: </strong>More than 250 000 women estimated to be diagnosed with breast cancer in the USA every year. Mastectomy is primary treatment for more than a third of those with early-stage disease. Most of the patients undergoing mastectomy receive breast reconstruction. A number of. Surgical techniques have been described to reconstruct the breast. With autologous tissue breast reconstruction, the plastic surgeon uses patient's own tissues, taken from a different part of the body where there is an excess of fat and skin. Deep inferior epigastric perforator (DIEP) flap is the autologous breast reconstruction technique of choice in our department due to long lasting results, low donor site morbidity and positive patient reported outcomes have been described.   Case Report: We present the case of a 42-year-old woman who underwent neoadjuvant chemotherapy followed by left breast simple mastectomy, axillary lymph-nodes dissection and later adjuvant radiation therapy (RT). After conclusion of RT a DIEP flap breast reconstruction was performed. Nine-hours after the operation, signs of acute venous congestion were noted. The venous congestion was treated by a combined surgical and medical approach based on pedicle discharge and ICU resuscitation protocol. After take back surgery, the patient was tightly monitored in the intensive care unit where intravenous heparin infusion and leech therapy were performed for 2 days. Flap congestion resolved completely, and the patient was discharged.   Conclusions: Venous congestion is very difficult to treat due to its potential multifactorial nature. The most important step is to recognize this kind of emergency because irreversible microvascular damages will develop in 6-8 hours. Because of multiple causes of venous congestion a timely multidisciplinary approach is mandatory, to maximize flap salvage and success rates.</p>","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"93 S1","pages":"e2022180"},"PeriodicalIF":0.0,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/66/19/ACTA-93-180.PMC10510956.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41172346","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}
引用次数: 0
Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency. 努南综合征:在耳蜗神经缺乏的情况下进行耳蜗植入。
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-07 DOI: 10.23750/abm.v93iS1.11063
Giovanni Ciavarro, Andrea Bacciu, Filippo Di Lella, Vincenzo Vincenti
{"title":"Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency.","authors":"Giovanni Ciavarro,&nbsp;Andrea Bacciu,&nbsp;Filippo Di Lella,&nbsp;Vincenzo Vincenti","doi":"10.23750/abm.v93iS1.11063","DOIUrl":"https://doi.org/10.23750/abm.v93iS1.11063","url":null,"abstract":"<p><strong>Background and aim: </strong>Noonan syndrome (NS) is a congenital disorder characterized by a wide heterogeneity in clinical and genetic features. Hearing loss can frequently occur in NS, although not always mentioned in its diagnostic criteria. We are reporting on a child with an established NS who underwent bilateral cochlear implantation (CI) in the setting of cochlear nerve deficiency.</p><p><strong>Case presentation: </strong>We present the case of a child-girl affected by NS. Newborn hearing screening and audiological evaluations reveled an asymmetric sensorineural hearing loss (SNHL), profound at left ear and severe at right ear. Hearing aids were fitted at the age of six months. Brain magnetic resonance imaging showed hypoplastic cochlear nerves. Due to progressive worsening of the hearing thresholds and inappropriate speech development, at the age of 2 years she underwent a left-sided cochlear implantation. Four years later, right ear was also implanted. Six years after the first surgery, a partial extrusion of the electrode array was noticed. Explantation and reimplantation of a new device was performed, adopting a subtotal petrosectomy approach. The patient reached a score of 95% in open-set speech perception tests.</p><p><strong>Conclusions: </strong>Hearing loss is a frequent finding in patients with NS; however, its nature and severity are very heterogenous. In consideration of the possible progression of SNHL, audiological follow-up in NS patients must be carefully and periodically performed so as to early detect worsening of hearing threshold. If indicated, cochlear implantation should be considered, taking account of audiological and systemic features of this syndrome.</p>","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"93 S1","pages":"e2022113"},"PeriodicalIF":0.0,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/77/ACTA-93-113.PMC10510969.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41176193","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}
引用次数: 0
Pediatric obesity: a mini-review for pediatrician 儿童肥胖:儿科医生的迷你回顾
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13078
I. Brambilla, Emanuela Bellanca, C. Pistone, M. De Filippo, M. Votto, Enrico Tondina, A. Licari, Carmen Guarracino, G. Marseglia
{"title":"Pediatric obesity: a mini-review for pediatrician","authors":"I. Brambilla, Emanuela Bellanca, C. Pistone, M. De Filippo, M. Votto, Enrico Tondina, A. Licari, Carmen Guarracino, G. Marseglia","doi":"10.23750/abm.v93iS3.13078","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13078","url":null,"abstract":"Obesity is a multifactorial disease, and its prevalence in children has been increased over the last 30 years in Italy and many other European Countries. Obesity significantly impacts the quality of life of affected patients and health care systems. Obesity is related to several clinical comorbidities, especially metabolic syndrome and diabetes. The standard of care in this patient is still considered lifestyle changes and a healthy diet with regular physical activity to prevent associated metabolic complications (impaired glucose tolerance and type 2 diabetes) and reduce cardiovascular risk.Therefore, pediatricians should recognize potential risk factors (sedentary lifestyle, sugar, and fats-rich diet, genetic syndromes) and early signs of overweight and obesity to promptly address the child to a pediatric endocrinologist and a specialized reference Center. (www.actabiomedica.it).","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90607993","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}
引用次数: 1
Whoever goes slowly (after eating) goes far (吃饭后)走得慢的人走得远
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13071
F. Betti, Manuela Dadda, B. Ronchi, G. Traina
{"title":"Whoever goes slowly (after eating) goes far","authors":"F. Betti, Manuela Dadda, B. Ronchi, G. Traina","doi":"10.23750/abm.v93iS3.13071","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13071","url":null,"abstract":"Food-dependent exercise-induced anaphylaxis (FDEIA) is an uncommon IgE-mediated hypersensitivity disease with limited prevalence data. Recently, reported cases of FDEIA have been increasing both in adults and children. FDEIA pathogenetic mechanisms are not yet completely understood. Factors that add up their effects are food ingestion and physical effort and, in some cases, concomitant diseases, alcohol, drugs, emotional stress, menstruation, and particular weather conditions contribute to enhancing the reaction. Food-specific FDEIA (sFDEIA) implies the presence of an IgE-mediated sensitization to one or more foods, while in unspecific FDEIA (nsFDEIA), any food can induce anaphylaxis without sensitization. Among causative foods, the most dominant trigger of FDEIA is wheat, in particular the allergen ω-5 gliadin (Tri a 19). Other common foods are seafood, seeds, grains, nuts, vegetables and fruit, cow’s milk, meat, and eggs. We present three cases of sFDEIA in children with clinical features and laboratory findings; the first was induced by a culprit food less frequently involved in sFDEIA than the others (www.actabiomedica.it).","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86247414","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}
引用次数: 0
Obesity and COVID-19 in children and adolescents: a double pandemic 儿童和青少年的肥胖和COVID-19:双重大流行
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13075
I. Brambilla, Francesco Delle Cave, Carmen Guarracino, M. De Filippo, M. Votto, A. Licari, C. Pistone, Enrico Tondina
{"title":"Obesity and COVID-19 in children and adolescents: a double pandemic","authors":"I. Brambilla, Francesco Delle Cave, Carmen Guarracino, M. De Filippo, M. Votto, A. Licari, C. Pistone, Enrico Tondina","doi":"10.23750/abm.v93iS3.13075","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13075","url":null,"abstract":"Background and aim of the study. The high prevalence of obesity and obesity-related comorbidities has reached pandemic proportions, particularly in Western countries. It has been recently recognized as a significant risk factor in severe cases of COVID-19 in children and adolescents. Here, we summarize the existing knowledge regarding the pathophysiology of COVID-19 and consider how its various components may be exacerbated by the presence of obesity to investigate the impact of obesity on disease severity among patients with COVID-19 and collaborate for better clinical care of these patients. Methods. The literature search was conducted from March 2020 to January 2022. A review of articles was performed via the online database PubMed, combining the terms “obesity,” “weight gain,” “COVID-19”, “children.” Results. Excessive adipose tissue, insulin resistance, dyslipidemia, hypertension, high levels of proinflammatory cytokines are factors that compromise the functioning of organs and systems in obese patients. In obese patients with COVID-19 these changes can increase the risk of death, need for ventilatory assistance, risk of thromboembolism, and perpetuation of inflammatory response. Conclusions. Obesity increases the risk for hospitalization, intensive care admission, mechanic ventilation requirement, and death among children and adolescents with COVID-19. These findings emphasize the need for effective actions by health professionals to increase awareness of the risks resulting from obesity and how these are heightened in the current global pandemic. (www.actabiomedica.it)","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80391603","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}
引用次数: 6
Safety of biological therapy in children and adolescents with severe asthma during the COVID-19 pandemic: a case series COVID-19大流行期间严重哮喘儿童和青少年生物治疗的安全性:一个病例系列
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13073
M. Votto, Viola Santi, Marta Bajeli, M. De Filippo, E. Deidda, Emanuela De Stefano, Francesco Dianin, Chiara Raviola, Cecilia Silvi, G. Marseglia, A. Licari
{"title":"Safety of biological therapy in children and adolescents with severe asthma during the COVID-19 pandemic: a case series","authors":"M. Votto, Viola Santi, Marta Bajeli, M. De Filippo, E. Deidda, Emanuela De Stefano, Francesco Dianin, Chiara Raviola, Cecilia Silvi, G. Marseglia, A. Licari","doi":"10.23750/abm.v93iS3.13073","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13073","url":null,"abstract":"Background and aim: It is still unclear whether patients with severe asthma are at greater risk of developing severe COVID-19, particularly pediatric allergic patients under biologic therapy. Studies targeting pediatric patients are currently limited; thus, this study aims to assess the clinical characteristics of young patients with severe asthma under biological therapies during the COVID-19 pandemic. Methods: We collected data from February 2020 to April 2021. Patients with severe asthma treated with biological therapies (omalizumab and mepolizumab) have been enrolled. We described demographic data, clinical features, therapies, comorbidities, and laboratory findings for each patient. For patients who got COVID-19, we also described the severity of the disease, the need for hospitalization, and specific therapy. Results: A total of 14 patients were included in the study, 11 (78.6%) of them under treatment with omalizumab and 3 (21.6%) with mepolizumab. We identified four patients (28.6%) who tested positive for SARS-CoV-2. Two patients treated with mepolizumab had an asymptomatic disease, and two patients treated with omalizumab had mild disease. Only one patient with mild COVID-19 required hospitalization and specific therapy because of severe obesity. Conclusions: No differences regarding the SARS-CoV-2 infection have been found between the two treatments groups. Furthermore, any poor outcome has been observed, confirming the safety of biological therapies. The limited number of patients enrolled and the lack of a control group did not establish a significant risk for infections for these patients. (www.actabiomedica.it).","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"46 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86736665","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}
引用次数: 3
Pulmonary embolism in children, a real challenge for the pediatrician: a case report and review of the literature 儿童肺栓塞,对儿科医生的真正挑战:一个病例报告和文献回顾
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13070
Alessandra Maggio, Lilia Altieri, D. Pantaleo, M. Grignani, L. Decembrino
{"title":"Pulmonary embolism in children, a real challenge for the pediatrician: a case report and review of the literature","authors":"Alessandra Maggio, Lilia Altieri, D. Pantaleo, M. Grignani, L. Decembrino","doi":"10.23750/abm.v93iS3.13070","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13070","url":null,"abstract":"Venous thromboembolism (VTE) is a coagulopathic disease that may appear with deep vein thrombosis (DVT), pulmonary embolism (PE), or both and is responsible for increased mortality and morbidity in children. We report a case of PE in a male teenager obese boy in the setting of a thrombophilic genetic disorder, infective condition, and immobility. Our experience underlines as PE in childhood is a multifactorial disease in which clinical risk factors and inherited thrombophilia contribute to the development. It is crucial to identify one or more risk factors leading to the most appropriate diagnostic workup.","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"61 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90762902","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}
引用次数: 0
46, XY Disorders of Sexual Development: a case report and its theoretical framework 性发育障碍:一例报告及其理论框架
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13067
I. Brambilla, Enrico Landi, Carmen Guarracino, C. Pistone, Enrico Tondina, F. Sirchia, L. Avolio, P. Romano, S. Cavaiuolo, A. Licari, G. Riccipetitoni
{"title":"46, XY Disorders of Sexual Development: a case report and its theoretical framework","authors":"I. Brambilla, Enrico Landi, Carmen Guarracino, C. Pistone, Enrico Tondina, F. Sirchia, L. Avolio, P. Romano, S. Cavaiuolo, A. Licari, G. Riccipetitoni","doi":"10.23750/abm.v93iS3.13067","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13067","url":null,"abstract":"Background and aim: Disorders of sexual differentiation (DSD) with karyotype 46,XY include gonadal developmental differences such as complete gonadal dysgenesis, partial gonadal dysgenesis, testicular regression and ovotesticular sexual differentiation disorder, differences in androgen synthesis or action, such as androgen synthesis deficiency, androgen action deficits, LH receptor deficiency, AMH synthesis or action deficits, and other conditions such as severe hypospadias, cloaca estrophy, etc. Methods: A 17 years-old girl came to our attention for hirsutism, clitoral hypertrophy, primary amenorrhea, and bilateral mammary hypoplasia. According to clinical features and anamnesis, the diagnosis of 46, XY DSD was made. For diagnostic purposes, she underwent an extensive genetic analysis, hormone dosage and instrumental examinations. After a clitoridoplasty and hormone replacement treatment, the patient performs appropriate multidisciplinary follow-up and regular psychotherapy. Results: The clinical case reported falls, according to the recent classification developed by the Chicago Consensus, within the scope of DSD with karyotype 46, XY. About 160 cases of patients with 17β-HSD3 deficiency, diagnosed at a mean age of 12 years, are described in the literature, most of them coming from Western Asia and Europe and only three cases from Eastern Asia. Clinically, about 30% of patients showed virilization, 20% clitoromegaly, ambiguous genitalia, inguinal/labial mass, 16% primary amenorrhea, and 5% absence of mammary development, features that are partly traced in the case described here. Conclusions: This case underscores the complexity of managing individuals with DSD. Having acquired the concept that irreversible surgery should be avoided, except in cases where failure to do so would determine health risks, the primary objective of the medical decision lies in meeting conditions aimed at harmonious sexual identification, especially regarding sexual activity and fertility, involving a team of experienced professionals (psychologists, pediatricians, surgeons, endocrinologists, radiologists), capable of promptly identifying suggestive clinical signs. (www.actabiomedica.it).","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"101 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75230642","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}
引用次数: 0
Clinical and Epidemiological Features of Pediatric Patients with COVID-19 in a Tertiary Pediatric Hospital 某三级儿科医院新冠肺炎患儿临床及流行病学特征分析
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13074
M. De Filippo, P. Magri, G. Bossi, I. Brambilla, R. Castagnoli, A. Mascolo, M. Votto, A. Licari, G. Marseglia
{"title":"Clinical and Epidemiological Features of Pediatric Patients with COVID-19 in a Tertiary Pediatric Hospital","authors":"M. De Filippo, P. Magri, G. Bossi, I. Brambilla, R. Castagnoli, A. Mascolo, M. Votto, A. Licari, G. Marseglia","doi":"10.23750/abm.v93iS3.13074","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13074","url":null,"abstract":"Background: Coronavirus disease 2019 (COVID-19) affects people of any age with high mortality and morbidity in adults older than 65 years. Reports on pediatric cases highlighted those children generally develop milder symptoms than adults or are asymptomatic. We aimed to assess the epidemiological and clinical data of children and adolescents with SARS-CoV-2 infection to improve pediatric COVID-19. Methods: We retrospectively analyzed clinical and epidemiological features of patients with SARS-CoV-2 infection hospitalized at the Pediatric Hospital of Pavia, Italy, between February 1, 2020, to April 30, 2021. Results: 71 patients aged 0-16 years were included; 33 (46%) females and 38 (54 %) males. Thirty-three (46%) patients had comorbidities, such as obesity and hematological diseases. Thirty-one children (44%) were exposed to COVID-19-positive household members. Nine (12.7 %) patients were asymptomatic, whereas 57 (80.3%) had a mild-moderate disease. Only five (7%) showed a severe or critical disease, and two patients required ICU admission. The most frequent symptoms were fever (76%), loss of appetite (26%), gastrointestinal symptoms (19%), and cough (19%). Chest X-ray was performed in 42 patients showing lung abnormalities in more than half of symptomatic patients. The most common laboratory features were lymphopenia and eosinopenia associated with high levels of inflammation markers. Conclusions: This study confirmed that COVID-19 has a mild course in children compared to adults. Most of the enrolled children were asymptomatic or had a mild-moderate disease. Patients with comorbidities were more prone to develop clinical complications. (www.actabiomedica.it)","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89740716","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}
引用次数: 3
Pseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected 假性甲状旁腺功能低下:一旦检测到甲状旁腺激素升高,就要考虑诊断
Acta bio-medica : Atenei Parmensis Pub Date : 2022-06-06 DOI: 10.23750/abm.v93iS3.13072
I. Brambilla, Federico Rossi, C. Pistone, A. Licari, M. De Filippo, M. Votto, Enrico Tondina, Carmen Guarracino
{"title":"Pseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected","authors":"I. Brambilla, Federico Rossi, C. Pistone, A. Licari, M. De Filippo, M. Votto, Enrico Tondina, Carmen Guarracino","doi":"10.23750/abm.v93iS3.13072","DOIUrl":"https://doi.org/10.23750/abm.v93iS3.13072","url":null,"abstract":"Background and aim: Pseudohypoparathyroidism (PHP) is a rare disease, which can occur in the youth, characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH) in target organs. This condition encompasses different conditions which differ between one another by different clinical, biochemically, and genetic features. Methods: Herein we report the clinical history of a boy with PHP1B with an interesting clinical presentation. He came in fact to the attention of the Emergency Department because of a spontaneously resolving epileptic attack, lasting about 15 minutes, characterized by loss of consciousness, fall to the ground, tonic-clonic shocks, and sphincter release. Moreover, the personal history was characterized by congenital long QT syndrome (LQTS), with a documented mutation of the KCNQ1 gene, treated with beta-blockers (nadolol). Results: The simultaneous presence of symptomatic acute hypocalcemia and long QT syndrome undoubtedly required particular attention both in the management of the onset and in the more in-depth subsequent diagnostics. In this regard, laboratory tests and molecular analyzes have proved to be crucial in the diagnostic process. Conclusions: this case underlines the diagnostic path complexity in patients with PTH elevation and the importance of considering all the possible differential diagnoses in order to undertake a timely and correct course of treatment. (www.actabiomedica.it).","PeriodicalId":93849,"journal":{"name":"Acta bio-medica : Atenei Parmensis","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73317543","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}
引用次数: 0
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