Search Results (14)

Background/Objectives: Defects in maxillary and mandibular continuity are common in maxillofacial practice. They can occur after trauma, osteonecrosis, congenital jaw deformities, or surgical resection of benign or malignant tumours. Reconstruction with microvascular bone flaps and subsequent prosthetic rehabilitation is considered the contemporary first line treatment. This study assessed the extent to which the underlying disease influences the treatment course of microvascular segmental jaw reconstruction. Methods: A retrospective review of prospectively collected data from all patients who underwent microvascular segmental jaw reconstruction from January 2011 to December 2020 was completed. The course of treatment as well as the process of dental rehabilitation was assessed. Results: Two hundred patients were included in the study. A total of 15.5% of patients were fitted with a conventional removable prosthesis, and implant-supported prosthetic restoration could be realized in 53.5% of patients. However, dental rehabilitation was not possible in 31.0% of patients. The outcomes of prosthetic restoration showed a statistically significant difference between the different underlying diseases (p < 0.0001). About 50% of patients with malignant diseases and osteonecrosis remained without dental rehabilitation. In contrast, more than 90% of patients with jaw continuity defects, due to benign diseases or malformations, were able to receive an implant-supported prosthesis. Among the diagnostic groups, there was a significant difference regarding the number of implants placed (p < 0.0001). There was a significant correlation between increased incidence of complications and the size of the bone flaps. Conclusions: The underlying disease influenced significantly the treatment course and the outcome of dental rehabilitation after microvascular jaw reconstruction. Full article

Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia (CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This narrative review is based on a PubMed search of full-length, English articles between January 2014 and July 2023. We included 52 original papers: 9 studies, 8 case series, and 35 single case reports. Firstly, we introduce a case-based analysis of 59 CAH-ATs cases with four types of enzymatic defects (CYP21A2, CYP17A1, CYP17B1, and HSD3B2). Secondarily, we analysed prevalence studies; their sample size varied from 53 to 26,000 individuals. AT prevalence among CAH was of 13.3–20%. CAH prevalence among individuals with previous imaging diagnosis of AT was of 0.3–3.6%. Overall, this 10-year, sample-based analysis represents one of the most complex studies in the area of CAH-ATs so far. These masses should be taken into consideration. They may reach impressive sizes of up to 30–40 cm, with compressive effects. Adrenalectomy was chosen based on an individual multidisciplinary decision. Many tumours are detected in subjects with a poor disease control, or they represent the first step toward CAH identification. We noted a left lateralization with a less clear pathogenic explanation. The most frequent tumour remains myelolipoma. The risk of adrenocortical carcinoma should not be overlooked. Noting the increasing prevalence of adrenal incidentalomas, CAH testing might be indicated to identify non-classical forms of CAH. Full article

3D printing has been increasingly used for medical applications with studies reporting its value, ranging from medical education to pre-surgical planning and simulation, assisting doctor–patient communication or communication with clinicians, and the development of optimal computed tomography (CT) imaging protocols. This article presents our experience of utilising a 3D-printing facility to print a range of patient-specific low-cost models for medical applications. These models include personalized models in cardiovascular disease (from congenital heart disease to aortic aneurysm, aortic dissection and coronary artery disease) and tumours (lung cancer, pancreatic cancer and biliary disease) based on CT data. Furthermore, we designed and developed novel 3D-printed models, including a 3D-printed breast model for the simulation of breast cancer magnetic resonance imaging (MRI), and calcified coronary plaques for the simulation of extensive calcifications in the coronary arteries. Most of these 3D-printed models were scanned with CT (except for the breast model which was scanned using MRI) for investigation of their educational and clinical value, with promising results achieved. The models were confirmed to be highly accurate in replicating both anatomy and pathology in different body regions with affordable costs. Our experience of producing low-cost and affordable 3D-printed models highlights the feasibility of utilizing 3D-printing technology in medical education and clinical practice. Full article

Polyhydramnios represents a complication found in 0.2–2% of pregnancies, and it is usually diagnosed between 31 and 36 weeks of pregnancy. Although most cases of polyhydramnios are idiopathic, maternal diabetes or foetal malformations constitute frequent causes of the excessive accumulation of the amniotic fluid. Considering the latter, polyhydramnios may rarely be caused by foetal abdominal tumours, with the incidence rate of 2–14 cases per 100,000 live births. Congenital neonatal leukaemia (CNL) is a rare disease with a reported incidence rate of 5–8.6 cases per million live births. In the prenatal period, the ultrasound abnormalities associated with CNL include hepatomegaly and splenomegaly. In this paper, we presented a case of polyhydramnios caused by mechanical pressure on the foetal gastrointestinal tract by an enlarged lymph node in the course of CNL, as well as reviewing the available literature on foetal abdominal tumours with concurrent polyhydramnios. Full article

Decompressive craniectomy is one of the most common neurosurgical procedures, usually performed after neuropathological disorders, such as traumatic brain injury (TBI), but also vascular accidents (strokes), erosive tumours, infections and other congenital abnormalities. This procedure is usually followed by the reconstruction of the cranial vault, which is also known as cranioplasty (CP). The gold-standard material for the reconstruction process is the autologous bone of the patient. However, this is not always a feasible option for all patients. Several heterologous materials have been created in the last decades to overcome such limitation. One of the most prominent materials that started to be used in CP is porous hydroxyapatite. PHA is a bioceramic material from the calcium phosphate family. It is already widely used in other medical specialties and only recently in neurosurgery. In this narrative review of the literature, we summarize the evidence on the use of PHA for cranial reconstruction, highlighting the clinical properties and limitations. We also explain how this material contributed to changing the concept of cranial reconstruction from reparative to regenerative surgery. Full article

Total or partial vulvo-vaginectomy or vaginectomy are not routinely performed due to the complexity of the techniques and because they are considered radical treatments. Little information can be found in the literature, as the same technique is often named in a different way by different authors, confusing the reader. Therefore, the aim of this essay is to describe five different surgical techniques: partial vaginectomy, complete vaginectomy, partial vestibule-vaginectomy, vulvo-vestibule-vaginectomy and vulvo-vestibulectomy. All techniques are described on the basis of the correct identification of the anatomical nomenclature related to structures involved in surgery, in order to give a more precise and unambiguous description and execution of surgical techniques. Moreover, possible intraoperative and perioperative complications and the authors’ clinical experience in 33 dogs are described. All techniques are well tolerated and could be curative in case of benign or malignant tumours that have not yet metastasized and palliative in other cases. Moreover, they are also useful for therapeutic purposes for chronic vaginitis, severe vaginal cysts or congenital abnormalities. It is our opinion that having five different available techniques to approach vaginal disease is useful to perform the best surgery according to the clinical findings, patient’s characteristics, technique invasiveness and whether it is palliative or not. Full article

Background and Objectives: According to a recent Cochrane systematic review, renal impairment can develop in 0–84% of childhood cancer survivors in the future. The renal function impairment in this patient group can be related to nephrectomy, nephrotoxic agents therapy, abdominal radiotherapy, and combinations of these treatment methods. In this study, in a population of patients after anti-neoplastic therapy, with particular emphasis on patients after Wilms’ tumour treatment, we compared new substances which play role in the chronic kidney disease (CKD) pathogenesis (asymmetric dimethylarginine—ADMA, symmetric dimethylarginine—SDMA) with standard renal function markers (e.g., creatinine and cystatin C in serum, creatinine in urine, etc.) to assess the usefulness of the former. Materials and Methods: Eighty-four children, without CKD, bilateral kidney tumours, congenital kidney defects, or urinary tract infections, with a minimum time of 1 year after ending anti-neoplastic treatment, aged between 17 and 215 months, were divided into three groups: group 1—patients after nephroblastoma treatment (n = 21), group 2—after other solid tumours treatment (n = 44), and group 3—after lymphoproliferative neoplasms treatment (n = 19). The patients’ medical histories were taken and physical examinations were performed. Concentrations of blood urea nitrogen (BUN), creatinine, cystatin C, C-reactive protein (CRP), ADMA, and SDMA in blood and albumin in urine were measured, and a general urine analysis was performed. The SDMA/ADMA ratio, albumin–creatine ratio, and estimated glomerular filtration rate (eGFR) were calculated. eGFR was estimated by three equations recommended to the paediatric population by the KDIGO from 2012: the Schwartz equation (eGFR1), equation with creatinine and urea nitrogen (eGFR2), and equation with cystatin C (eGFR3). Results: Both the eGFR1 and eGFR2 values were significantly lower in group 1 than in group 3 (eGFR1: 93.3 (83.1–102.3) vs. 116.5 (96.8–126.9) mL/min/1.73 m², p = 0.02; eGFR2: 82.7 (±14.4) vs. 94.4 (±11.9) mL/min/1.73 m², p = 0.02). Additionally, there were weak positive correlations between SDMA and creatinine (p < 0.05, r = 0.24), and cystatin C (p < 0.05, r = 0.32) and weak negative correlations between SDMA and eGFR1 (p < 0.05, r = −0.25), eGFR2 (p < 0.05, r = −0.24), and eGFR3 (p < 0.05, r = −0.32). Conclusions: The usefulness of ADMA and SDMA in the diagnosis of renal functional impairment should be assessed in further studies. eGFR, calculated according to equations recommended for children, should be used in routine paediatric practice. Full article

Infantile myofibromatosis (IM) is a rare condition with a variable clinical presentation that characteristically affects young children. Most frequently it presents as one or more benign nodules of the skin, bones, soft tissues, or, rarely, visceral organs. According to the location and number of lesions, there are three different forms: solitary, multicentric without visceral involvement, and multicentric with visceral involvement (generalised), with the latter having the least favourable prognosis. We present a unique case of severe congenital generalised IM in a new-born male who required intubation and mechanical ventilation immediately after the birth due to respiratory distress. A chest radiograph showed numerous tumours involving the entire lung, resembling a metastatic lung disease. Additionally, the neonate had multiple, bluish, papular skin nodules and a biopsy of a skin nodule ultimately led to the diagnosis of IM. Diffuse lung involvement prevented adequate ventilation which resulted in multiorgan failure and death before targeted treatment could have been initiated. The presented case is unique, as such atypical extensive involvement of the lung and leptomeninges in IM has not been reported before. In this brief report, we present the findings of radiographic and ultrasonographic examinations in correlation with autopsy and histopathology. Full article

Undifferentiated sarcomas are rare conditions that represent a group of unclassified sarcomas. The purpose of this study is to describe the clinical and pathological features of a calf showing a congenital infiltrating suborbital mass suggestive of undifferentiated sarcoma. The animal was referred because of respiratory distress and the presence of a right suborbital mass since birth. At ultrasonography, the mass displayed an irregular shape with multiple cavities. Radiographs revealed a diffuse, poorly defined mass with different densities overlying the bony structures of the skull. Endoscopy showed a co-involution of the mass in the right side with extension into the nasopharynx. Post-mortem examination showed a round, poorly demarcated neoplasia infiltrating the nasal turbinate and displacing the nasal septum. Histologically, the subcutis was expanded by lobules and bundles of densely cellular neoplastic spindle cells. The neoplasm infiltrated the underlying muscles, bone and the right retromandibular lymph node. The neoplastic cells had a diffuse intense cytoplasmic immunexpression to vimentin, and were negative to cytokeratin AE1/AE3, desmin, MUM1, IBA1, melan A, chromogranin and synaptophysin. Full article

Three-dimensional (3D) printing has been increasingly used in medicine with applications in many different fields ranging from orthopaedics and tumours to cardiovascular disease. Realistic 3D models can be printed with different materials to replicate anatomical structures and pathologies with high accuracy. 3D printed models generated from medical imaging data acquired with computed tomography, magnetic resonance imaging or ultrasound augment the understanding of complex anatomy and pathology, assist preoperative planning and simulate surgical or interventional procedures to achieve precision medicine for improvement of treatment outcomes, train young or junior doctors to gain their confidence in patient management and provide medical education to medical students or healthcare professionals as an effective training tool. This article provides an overview of patient-specific 3D printed models with a focus on the applications in cardiovascular disease including: 3D printed models in congenital heart disease, coronary artery disease, pulmonary embolism, aortic aneurysm and aortic dissection, and aortic valvular disease. Clinical value of the patient-specific 3D printed models in these areas is presented based on the current literature, while limitations and future research in 3D printing including bioprinting of cardiovascular disease are highlighted. Full article

Fibrinogen is a hexameric plasmatic glycoprotein composed of pairs of three chains (Aα, Bβ, and γ), which play an essential role in hemostasis. Conversion of fibrinogen to insoluble polymer fibrin gives structural stability, strength, and adhesive surfaces for growing blood clots. Equally important, the exposure of its non-substrate thrombin-binding sites after fibrin clot formation promotes antithrombotic properties. Fibrinogen and fibrin have a major role in multiple biological processes in addition to hemostasis and thrombosis, i.e., fibrinolysis (during which the fibrin clot is broken down), matrix physiology (by interacting with factor XIII, plasminogen, vitronectin, and fibronectin), wound healing, inflammation, infection, cell interaction, angiogenesis, tumour growth, and metastasis. Congenital fibrinogen deficiencies are rare bleeding disorders, characterized by extensive genetic heterogeneity in all the three genes: FGA, FGB, and FGG (enconding the Aα, Bβ, and γ chain, respectively). Depending on the type and site of mutations, congenital defects of fibrinogen can result in variable clinical manifestations, which range from asymptomatic conditions to the life-threatening bleeds or even thromboembolic events. In this manuscript, we will briefly review the main pathogenic mechanisms and risk factors leading to thrombosis, and we will specifically focus on molecular mechanisms associated with mutations in the C-terminal end of the beta and gamma chains, which are often responsible for cases of congenital afibrinogenemia and hypofibrinogenemia associated with thrombotic manifestations. Full article

Lipomas, the most common type of benign tumours, are generally developed from adipose tissue and present an incidence of 2.1 per 1000 inhabitants. In addition to lipomas, at least three other maladies of the adipose tissue lead patients to consult a doctor, especially for aesthetic purposes: multiple familial lipomatosis, diffuse congenital lipomatosis, and adiposa doloris. Unlike lipomas, these maladies are characterized by numerous lipomas, encapsulated or not, of different sizes, symmetrical or not, which may appear in the neck, limbs, or the trunk, sometimes being painful. The life quality of these patients is affected, not only from an aesthetic point of view but also from medical considerations, like pain. Chemical lipolysis has proven unsatisfactory for patients due to several reasons: the prolonged therapy, high cost, the partial dissolution of the lipomatosis, and high recurrence at one year. Surgical treatment remains the only viable option; sometimes when numerous lipomatous tumors required large and numerous incisions, treatment was refused by patients. The result after laser liposuction is excellent, the recovery time is short, without much pain for the patient, with minimal ecchymoses and edemas, without any recurrence in time, and with an excellent degree of patient satisfaction. Full article

The tumour suppressor PTEN is frequently downregulated, mutated or lost in several types of tumours and congenital disorders including PHTS (PTEN Hamartoma Tumour Syndrome) and ASD (Autism Spectrum Disorder). PTEN is a lipid phosphatase whose activity over the lipid messenger PIP₃ counteracts the stimulation of the oncogenic phosphatidylinositol 3-kinase (PI3K) pathway. Recently, several extended versions of PTEN produced in the cell by alternative translation initiation have been described, among which, PTEN-L and PTEN-M represent the longest isoforms. We previously developed a humanized yeast model in which the expression of PI3K in Saccharomyces cerevisiae led to growth inhibition that could be suppressed by co-expression of PTEN. Here, we show that the expression of PTEN-L and PTEN-M in yeast results in robust counteracting of PI3K-dependent growth inhibition. N-terminally tagged GFP-PTEN-L was sharply localized at the yeast plasma membrane. Point mutations of a putative membrane-binding helix located at the PTEN-L extension or its deletion shifted localization to nuclear. Also, a shift from plasma membrane to nucleus was observed in mutants at basic amino acid clusters at the PIP₂-binding motif, and at the Cα2 and CBR3 loops at the C2 domain. In contrast, C-terminally tagged PTEN-L-GFP displayed mitochondrial localization in yeast, which was shifted to plasma membrane by removing the first 22 PTEN-L residues. Our results suggest an important role of the N-terminal extension of alternative PTEN isoforms on their spatial and functional regulation. Full article

Teratoma is the most commonly encountered germ cell tumour among the most common ovarian tumours; however, teratomas of the omentum and mesentery are extremely rare. They are usually asymptomatic or can produce compressive symptoms. The imaging features are suggestive. The present report describes such a case of primary omental teratoma encountered in a young patient, which was managed by surgical resection. The histopathological examination confirmed the diagnosis of mature cystic teratoma. Germ cell tumors are congenital tumors containing derivatives of all the three germinal layers, frequently seen in gonads. But their occurrence in extragonadal sites, such as omental teratoma, is relatively rare. Full article