Search

Mucormycosis is a fungal infection commonly seen in Indian population, in which aggressive surgical intervention to cut away the infected tissue becomes necessary. This may cause disfigurement and leave open wounds which requires prosthetic replacement for psychological benefit and also protect the inner soft tissues of the patient which are exposed to the foreign bodies. Mucormycosis has shown a sudden surge in recent times associated with patients affected by Covid-19. It is a rare but serious complication which can cause loss of eye, nose and associated structures leaving the patient disfigured. The aim of this case report is to describe an economic but effective nonsurgical treatment option to restore the facial defect using acrylic resin baseplate to enhance retention by using the available undercuts and was packed using silicone material. The prosthesis was retained mechanically and omitted the use of any retentive aids such as the use of spectacles or implants.

BackgroundThe incidence of thyroid carcinoma has been increasing worldwide and surgery is the primary treatment. Central compartment dissection of the neck is a very delicate procedure given the risks of recurrent laryngeal nerve injury and hypoparathyroidism.MethodsThis paper gives a detailed description of this surgical technique in a patient affected by papillary carcinoma of the thyroid gland, supported by highly representative iconographic materials from a tertiary department.ResultsA stepwise description is provided, along with high-quality pictures and specific tips and tricks. Although neck dissection is a well-codified procedure, the fine details of this surgical technique are not currently available and are still the prerogative of the expert surgeon.ConclusionThe central neck compartment contains several vulnerable structures; damage to these structures would affect patients’ lives, possibly permanently. Anatomical knowledge and standardisation are needed for all surgeons, particularly new surgeons (such as residents) who cannot rely simply on experience.

Introduction: Endometrial cancer is one of the most common malignancies of the female genital tract, which can be serious or life-threatening. Microbial infections can be one of the underlying causes of this type of cancer. Case Presentation: The present study describes the isolation of Pichia fermentans (Candida firmentaria var. firmentaria) from the vaginal secretions of a 61-year-old woman affected by endometrial cancer. She reported abdominal pain and vaginal discharge for 3 months, and had a history of diabetes, hypertension, Deep Vein Thrombosis (DVT), and Acute Myeloid Leukemia (AML). The isolated yeast was identified based on nuclear ribosomal internal transcribed spacer (ITS1-ITS2 rDNA) sequence analysis. The in vitro antifungal susceptibility testing showed a higher effect for ketoconazole against P. fermentans than fluconazole, itraconazole and voriconazole. Conclusion: Correct differentiation between P. fermentans and other yeast should be considered. The in vitro antifungal susceptibility testing is recommended for rare yeast, and will help the physicians in providing the best treatment.

Objective: Undocumented migrants in Europe face multiple barriers in access to oral health care. This study aimed to explore the accessibility of a voluntary dental network providing dental treatments to undocumented migrants in the Netherlands, from the perspectives of patients, dentists and staff members of nongovernmental organizations involved. Methods: This qualitative study used semi-structured interviews (n = 21) with undocumented migrants (n = 12), dentists (n = 7) and staff members of nongovernmental organizations (n = 2) during the implementation of a voluntary dental network. Interviews were analysed using a framework analysis method. Results: As a temporary answer to problems in access to oral health for undocumented migrants, the voluntary dental network targeted initial barriers to dental care. Main challenges within the network were conflicting expectations and perceived treatment outcomes by patients, dentist and NGO staff members, limited financial resources, logistic and communication barriers and an increasing administrative burden. Furthermore, feelings of compassion for and trust of the patient affected the ethics of the professional relationship and influenced treatment decisions of dentists. Conclusion: Through the implementation of a voluntary dental network, treatments could be provided to undocumented migrants as a temporary solution. However, the voluntary nature of dental care in the network resulted in a fragmented provision of oral health care among undocumented migrants. To reduce inequalities in oral health on the long term, systemic barriers in access to oral health care need to be addressed.

We describe a novel machine learning methodology which we call Coherent Voting Network (CVN) and we demonstrate its usefulness by building a 5-years prognostic predictor for post-surgery breast cancer patients based on CVNs. Coherent Voting Network (CVN) is a supervised learning paradigm designed explicitly to uncover non-linear, combinatorial patterns in complex data, within a statistical robust framework. Breast Cancer patients after surgery may receive several types of post-surgery adjuvant therapeutic regimen (endocrine, radio- or chemo-therapy, and combinations thereof) aiming at reducing relapse and the formation of metastases, and thus favouring log term survival. We wish to predict the outcome of adjuvant therapy using just small molecular fingerprints (mRNA) of the patient’s transcriptome. Our aim is to have simultaneously high scores for PPV (positive predictive value) and NPV (negative predictive value) as these are important indices for the final clinical applications of the predictor. A Training-validate-test protocol is applied onto CVN built on patient data from the Metabric Consortium (about 2000 patients). For the testing pool of 82 lymph node positive patients we obtain PPV 0.77 and NPV 0.78 (Odds Ratio 11.50); for the pool of 61 lymph node negative patients we obtain PPV 0.68 and NPV 0.88 (Odds Ratio 16.07). Improved results are obtained on some specific sub-types of BC. For the testing pool of 16 TNBC patients we obtain PPV 1.0 and NPV 0.83 (Odds Ratio 45.00). For the testing pool of 18 HER2+ patients we obtain PPV 0.91 and NPV 1.0 (Odds Ratio 40.00). For the testing pool of 41 Luminal B patients we obtain PPV 0.75 and NPV 0.95 (Odds Ratio 60.00). Effectiveness of the selected fingerprints is confirmed also on several independent data sets (for a total of 601 patients) from the NCBI Gene Expression Omnibus (GEO).

Background: Orofacial pain has a broad range of origins and a multidisciplinary approach occupies a relevant role. Objective: The aim of this study was to review the literature regarding the evolution of telemedicine and orofacial pain related to a case report of a patient affected by Eagle's syndrome. Materials and Methods: Two authors (RJM and SG) independently reviewed the literature up to March 2020. A case report was developed by including the interdisciplinary assessment and initial treatment of orofacial pain in a 38-year-old female patient affected by Eagle’s syndrome. The patient was interviewed by two different specialists (from Rome, Italy and Los Angeles, California) through an online meeting platform in order to evaluate her complex situation, demonstrating the possibilities that telemedicine offered during the COVID-19 pandemic. Conclusion: An interdisciplinary approach can be performed for future follow ups on patients as various advantages were found by the patient and by the clinicians themselves.

Purpose: To report a case of neurotrophic keratopathy (NK) in a patient affected by primary congenital glaucoma (PCG) who undergone glaucoma drainage implant surgery. NK was successfully treated with human recombinant Nerve Growth Factor (Cenegermin) eye drops. Case report description: A 46-years-old patient affected by primary congenital glaucoma underwent Ahmed glaucoma valve implantation in the right eye, after several unsuccessful surgeries to control intraocular pressure (IOP) since the age of three. Surgical intervention was performed without complications, and IOP was well-controlled post-operatively. However, 1 month after surgery, he developed NK with stromal ulceration, initially treated with a topical combination of preservative-free artificial tears and antibiotic ointment. As NK did not resolve, a new treatment with Cenegermin 20 µg/ml eye drops, 6 times daily, was started. Outcome: NK completely resolved after 8 weeks of Cenegermin treatment, with complete restoration of corneal integrity and improvement of corneal sensitivity and transparency. Visual acuity in the operated eye reverted to the pre-operative value. Conclusion: Cenegermin was extremely effective in restoring corneal integrity in this PCG patient with NK.

The COVID-19 pandemic has required reorganization of the cardiac surgery system in the Italian region of Lombardy during early 2020. As a consequence, the hub-and-spoke (H&S) model was introduced to manage emergent/urgent cardiac surgery cases. In this challenging scenario, in which thousands of people were affected by the novel coronavirus, we present the case of a successful treatment of a middle-aged patient affected by both COVID-19 pneumonia and subacute aortic endocarditis. Learning objective: How to treat endocarditis during the COVID-19 pandemic.

We report a case of a 46-year-old woman who presented to our emergency department with sudden onset of impaired consciousness, right flaccid hemiparesis, and aphasia. Plain computed tomography (CT) of the brain showed large intracerebral hemorrhage (ICH) in the left basal ganglia with extension into the ventricle. The patient was admitted to intensive care unit (ICU), and neurosurgical assessment was done with the decision to apply conservative treatment with close monitoring of neurological status and vital parameters. During the course of treatment, thorough diagnostic work was performed revealing that our patient was most likely affected with large vessel vasculitis (LVV), presumably Takayasu arteritis (TA). Immunosuppressive treatment was initiated with slight neurological improvement in the course of few weeks; currently, the patient is going through physical rehabilitation and is being followed up. Although neurological symptoms occur in substantial proportion of the patient affected with LVV, literature reporting massive intracerebral hemorrhage as well as occurrence of neurological symptoms as the first manifestation of the disease is scarce.

Uterine arteriovenous malformations are rare but may represent a life-threatening cause of vaginal bleeding. The typical patient affected is a multiparous woman during her thirties. The origin can be congenital or acquired, with the latter being more common after uterine surgery and presenting mainly as arteriovenous fistulous connections into the myometrium supplied by uterine arteries. The correct diagnosis of uterine arteriovenous malformations requires imaging findings of tubular and tortuous structures with mixed signal from arterial and venous flows; transvaginal color-Doppler ultrasound is the initial technique applied, then integrated with contrast-enhanced magnetic resonance or computed tomography. Multiple treatment approaches are available, including conservative-medical, endovascular embolization and surgery. Transarterial embolization represents the most applied, preserving childbearing capacity with negligible procedural complications; clinical and technical success rates are elevated, up to 90%. The goal of embolization is to occlude the point of fistula or the nidus and the application of multiple embolizing agents has been reported: despite there is no clear superiority of one over the others, liquids, especially those related to the dymethil-sulfoxide family, present relevant technical advantages. Surgery is nowadays to be considered when the endovascular approach fails and in these cases hysterectomy remains the common recommendation.

La malformación de Dandy Walker (DW) es una malformación cerebelosa asociada a múltiples déficits cognitivos, alteraciones psicopatológicas y alteraciones motoras. Presentamos el caso de un paciente afectado de esta malformación y derivado a la unidad de salud mental infantil por presentar psicopatología asociada. Realizamos una revisión sobre la epidemiología, la clínica, el pronóstico y la comorbilidad propia de esta malformación así como sobre la psicopatología asociada a la patología cerebelosa en su conjunto, incluyendo el síndrome cerebeloso cognitivo-afectivo de Shamahmann y Sherman. Por último, incluimos la descripción del caso y establecemos el diagnóstico diferencial a partir de la historia del paciente, la exploración del estado mental y el análisis de las exploraciones complementarias (radiológicas y neuropsicológicas).

The prevalence of superficial Mycotic infection worldwide is 20–25%. Medication non-adherence in patients leads to worsening of the disease, death and increased health care costs. More than 30% of medicine-related hospital admissions occur due to medication non-adherence. The aim of the study is assessing the factors associated with medication adherence in patients with dermatophytosis. Data were analyzed by using descriptive analysis of 305 patients attending the dermatology department. The period of study was three months. Medication adherence was determined using Morisky Green Levine Scale for dermatophytosis patients who are undergoing treatment. KAP (knowledge, attitude, practice) was used to determine the knowledge gaps, general health practice, and beliefs of the patient towards fungal infection. It was found that 47.86% of the subjects in the study are non- adherent and 49.50% are moderate adherents, and only 2.62% are highly adherent to medications prescribed. In KAP study, it was found that (14.4%) strongly agree that fungal infection does not create hindrance in normal life, while (28.85%) strongly disagree. Practice where analyzed in 305 subjects, (52.13%) share clothing with family members or friends, (50.16%) do not take medication as prescribed. The patient affected with fungal infections had poor adherence to the medicines prescribed. The risk factors affecting medication adherence are poor hygiene, sharing of cloths of friends or family, dosing schedule, complex regimens, access barriers, and cost of the drug. Patient education, in the early stages of fungal infection, can avoid non- adherence.

Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by pathogenic variants in the NF2 gene. To date, cytotoxic chemotherapy has no established role in the treatment of NF-2. Historical case reports of malignant schwannomas have documented responses to chemotherapies with cyclophosphamide, vincristine and doxorubicin, in patients who develop pulmonary metastases. Recently, several studies proposed the use of anti-HER2, anti-EGFR, anti-platelet-derived growth factor receptors. As reported in our previous review of the literature, vascular endothelial growth factor (VEGF) and its receptor VEGFR-1 have been detected in schwannomas with the best results. We described the case of a young patient with NF2 treated for long time with Bevacizumab. Here, we report the update of the previous case report.

Objective: To report presentation, diagnostic process, management and outcome of a case of autoimmune inner ear disease (AIED) related with Churg-Strauss syndrome, also known as eosinophilic granulomatosis with polyangiitis (EGPA), treated with cochlear implantation, and review of relevant literature. Case presentation and management: A retrospective case report of AIED associated with EGPA treated with cochlear implantation was described. A multi-step approach for diagnosis and confirmation of AIED and hearing rehabilitation was conducted, eventually leading to left cochlear implantation. Results: The surgery was without complications and postoperative course was uneventful. Two years after surgery, pure-tone and speech soundfield audiometry with left cochlear implant switched on showed a good improvement in pure-tone threshold and a word recognition score of 50% at 60 dB nHL. Literature review does not report any previous case of AIED EGPA-related. Conclusions: Cochlear implantation in AIED EGPA-related have been shown to be a viable treatment option in a stabilized phase of disease.

The relationship between parasites and glomerulonephritis (GN) is well documented in certain parasitoses, but not in cases of Strongyloides stercolaris (S. stercolaris) where there are few cases described being the majority GN of minimal changes. We report a case of hyperinfestation by S. stercolaris in a patient affected by a membranous GN treated with oral corticosteroids with fatal outcome for the patient. This case provides a double teaching: first about a rare association of strongyloid and membranous GN and second about the importance of establishing a diagnosis of suspected and appropriate treatment for certain infections or diseases with little clinical expression before starting any immunosuppressive treatment. Resumen: La relación entre parásitos y glomerulonefritis (GN) está bien documentada en determinadas parasitosis, no así en casos de Strongyloides stercolaris (S. stercolaris), donde hay pocos casos descritos, siendo la mayoría GN de cambios mínimos. Reportamos un caso de hiperinfestación por S. stercolaris en un paciente afectado de una GN membranosa tratado con corticoides por vía oral con resultado fatal para el paciente. Este caso nos aporta una doble enseñanza: en primer lugar, acerca de una asociación rara de estrongiloidiasis y GN membranosa, y en segundo lugar, sobre la importancia de establecer un diagnóstico de sospecha y tratamiento adecuados ante determinadas infecciones o enfermedades con poca expresividad clínica antes de iniciar cualquier tratamiento inmunosupresor.

This article, co-authored by a patient affected by bilateral, recurrent, atypical optic neuritis, and clinicians, discusses the mental burden of living with uncertainty and the possibility of further sight loss, along with the side effects of treatment. The patient shares some of the challenges, coping strategies, and the value they found in creating and participating in a patient support group. The physicians consider whether current clinical measures adequately capture the outcomes that matter to patients and discuss the role for patient-reported outcome measures (PROMs). We identify technological advances that are lowering traditional barriers to the use of PROMs in research and routine clinical care and look towards new PROM instruments enhancing shared patient-physician care in the future., Plain Language Summary In this patient-physician perspective article, we share the story of a patient affected by an autoimmune disease that attacks the nerves connecting the eyes and the brain and reflect back physicians’ perspectives on the disease and the patient’s experience of it. In a compelling account, we gain some understanding of what it might be like to live with the fear of unpredictable episodes of sudden, recurrent sight loss and the important impacts that this has on a patient’s life and mental wellbeing. We recognize that the outcome metrics that physicians usually focus on, such as measurement of vision and imaging of the optic nerve, do not fully capture the outcomes that most matter to the patient. We explore patient-reported outcome measures that go some way towards bridging this gap. Finally, we consider the technological advances that will make more comprehensive capture of the patient experience a reality in future clinical practice and research, supporting both patients and physicians to optimize shared care.

The ameloblastoma is an epithelial benign odontogenic tumor which is locally invasive, slow-growing and presents considerable recidive rates. It is considered the most clinically relevant benign odontogenic tumor, currently being classified as “ameloblastoma”, “unicystic ameloblastoma”, “peripheral or extraosseous ameloblastoma” and “metastatic ameloblastoma”. Unicystic type is the second most prevalent ameloblastoma, occurring in approximately 15% of all ameloblastomas, showing specific characteristics, especially in younger patients. The aim of this study is to clarify the characteristics of this type of ameloblastoma, presenting the case report of a young patient affected by the tumor in the jaw, highlighting clinical, imaginological, histopathological, therapeutic and prognostic aspects involved. In this case, the chosen treatment was, initially, the marsupialization of the lesion and posteriorly the enucleation with peripheral ostectomy and tooth extraction involved. This treatment option has shown good results, decreasing the patients damage when properly indicated, for this, an early and assertive diagnosis is essential, associating clinical and histopathological characteristics. The patient keeps on careful follow-up, since the proliferation pattern of the mural type requires greater attention given its greater possibility of recidive.

Psoriasis is a common inflammatory skin condition frequently associated with cardiometabolic diseases such as diabetes. Indeed, the state of systemic inflammation typical of psoriasis leads to an increase in the level of IL-1, IL-6 and TNF-alpha which may cause a reduced sensitivity to insulin and, ultimately, can lead to type 2 diabetes mellitus. Particularly, the derangement of PDE4-cAMP signaling has a critical role in disordered glucose and lipid metabolism. Apremilast, as a selective inhibitor of PDE4-cAMP signalling, represents an innovative therapeutic strategy for psoriasis. Here, we report a case of a patient affected by psoriasis and diabetes, who - after using Apremilast - improved his glucose metabolism as well as his need of anti-diabetic drugs and his psoriasis. This suggests that, in addition to its role against psoriasis, Apremilast may even act as a metabolic modulator.

A 12-year-old boy shows a restless sleep and snoring episodes declaring himself tired during the day and the school lessons. On clinical examination the patient presents a second-class profile, a retrusive jaw with a small chin and an open nasolabial angle. From the intraoral examination a tonsillar hypertrophy is denoted. The patient is sent by the ear, nose, and throat specialist (ENT) and subsequently subjected to a polysomnography (PSG). The ENT decides to subject him to a tonsillectomy and the subsequent PSG shows an improvement in the obstructive sleep apnea syndrome (OSAS) pathology with an apnea-hypopnea index (AHI) improved from 25.5 episodes/hr to 3.4 episodes/hr. Subsequently a orthodontic treatment with twin-block was start to further reduce the apnea episodes. The last PSG highlights the success of the treatment further lowering the AHI to 0.7 episodes/hr. This case report shows how a multidisciplinary approach to OSAS is fundamental also in the young patient and that the orthodontist carried out in this area a fundamental task both in diagnosis and treatment.

SUMMARY: In December 2019, a new subspecies of coronavirus was identied in China, which they called SARS-CoV-2, responsible for the subsequent disease that the WHO called COVID-19. The disease has spread rapidly causing a global pandemic. Much is still unknown about SARS-CoV-2, but early research supports the hypothesis that the severity of Covid-19 is conditioned by the hyperinammatory response that occurs in our body when in contact with SARS-CoV-2. The severity of the condition is related to the respiratory failure it causes, however, there are studies that do not limit pulmonary involvement. Research indicates that the access mechanism of SARS-CoV-2 to the body is closely related to the ACE2 enzyme. An enzyme that, among other tissues, can be found in the epithelium of renal tubular cells. This is the reason why there are data from patients with Covid-19 that have a great effect on kidney function. It is for this reason that this clinical case of renal lymphagectasia is presented. Renal lymphagectasia is a rare entity of renal lymphatics that occurs in both children and adults, it can be unilateral or bilateral and has no sex predilection. It is characterized because there is dilation of the lymphatic ducts, generating cavities occupied by a liquid content corresponding to lymph. Its most frequent locations are the neck (70%) and the armpit (20%). Renal lymphangiectasia (RFL) is of very low frequency and can be confused with other cystic pathologies of the kidney. RFL has been described by various names such as: renal lymphangioma, peri-pelvic lymphangiectasia, polycystic renal sinus disease, renal hygroma, and multicystic perippelvic renal lymphangiectasia. It is believed to occur due to an alteration in the communication between the renal lymphatic ducts and the retroperitoneal lymphatics. We report the case of an elderly patient with Covid-19 infection, and LFR, in which this alteration was discovered incidentally in the study of abdominal pain associated with microscopic hematuria. OBJECTIVE: Describe bilateral renal lymphangiectasia associated with covid-19 infection. DESIGN: Prospective, observational in a single center. METHODOLOGY: This is a systematic review of bilateral renal lymphangiectasia in a patient affected by the new coronavirus (Covid-19); emphasizing its clinical characteristics and its short-term complications. The information and images obtained belong to the medical staff in charge of the case, whose reinforcements are provided by the Excel, Word and JPG statistical package.

We report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified.

Systemic mastocytosis with associated primitive myelofibrosis is a rare and complex disease with a difficult therapeutic management. The release of several inflammation mediators can trigger acute cardiovascular events.

BACKGROUND Isolated tricuspid surgery is a rarely performed procedure considered at high risk for mortality. Preoperative risk estimation is still a s missing process and currently used risk score system are not validated for this procedures. AIM To discuss the external validation of the EuroSCORE II and STS-TVS score in the setting of isolated tricuspid valve surgery. DISCUSSION The stratification of the patient profile and risk estimation are still lacking in isolated tricuspid surgery. MELD Score, EuroSCORE II and STS-TVS score may help in the preoperative evaluation. Recently a dedicated score called TRI-SCORE has been introduced. We believe that the combination of these scores may determine a range of expected mortality rate and it could be an interesting approach to define the preoperative risk-profile of a patient planned for isolated tricuspid disease. Conclusion Further studies are needed to define the optimal risk stratification of patient affected by isolated tricuspid disease.

Malrotation of the gut is a rare occurrence, commonly diagnosed during childhood, but occasionally diagnosed in adults. In children, intestinal obstruction is the most common manifestation, whereas in adult patients, the diagnosis is more challenging since the symptoms are less specific with several episodes of abdominal pain and vomit. In a particular epidemic period, like the one we are going through, these generic symptoms may mislead to a wrong diagnosis. We present the case of a young man in which occlusion due to intestinal malrotation has been misinterpreted as gastroenteric symptoms of severe acute respiratory syndrome coronavirus 2 infection, and we also overview the correct Ladd’s technique, commonly performed by pediatrical surgeon, but unusual operation for adult general surgeons.

Background To report a clinical case of a patient affected with choroideremia (CHM) who underwent macular surgery for a macular hole (MH) with Lamellar Hole-associated Epiretinal Proliferation (LHEP). Case presentation We have described a 48-year-old male patient affected with CHM who developed MH with LHEP over a 7-year follow-up. The patient was referred to the Regional Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence (Italy) in April 2012. The patient underwent vitrectomy and Inner Limiting Membrane (ILM) and LHEP peeling with fluid-air exchange. Ultra-structural examination of the excised epiretinal proliferation, carried out using electron microscopy, showed dense amorphous material, mainly composed of abundant clusters of fibrous collagens resembling compact fibrous long spacing collagen (FLSC), embedded in native vitreous collagen (NVC) and type IV collagen. No cells were detected in any of the specimens collected. At the 3rd-week postoperative follow-up the macular hole was closed. Conclusion Macular hole with LHEP can be detected in CHM patients; in our patient the macular hole showed tractional and degenerative features, with good anatomical results after macular surgery.

This is a report of established invasive Aspergillus rhinosinusitis in a patient diagnosed with COVID‐19 and afflicted by AML, which was initially considered to be rhinocerebral mucormycosis.

Trinucleotide repeat expansion diseases such as fragile X syndrome are of great interest to study since the mechanism of its development is still unknown. IPS cell lines are some of the most convenient models for studying. The ICGi032-A iPS cell line was obtained from the peripheral blood mononuclear cells of the patient affected with fragile X syndrome. ICGi032-A iPS cell line have a normal karyotype, expression of pluripotency markers and can differentiate in vitro into the cells of three germ layers.

Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it can be diagnosed and prevented in families affected by the disease.

A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin isoform in the pathogenesis of ASD and other neurodevelopmental disorders. In this paper, we report a clinical case of a patient affected by ASD and Duchenne muscular dystrophy, who carries a large deletion of the dystrophin gene. Then we present a brief overview of the literature about similar cases and about the potential role of the dystrophin protein in the neurobiology of autism spectrum disorder.

CASE We present a 36-year-old man with L1 burst fracture after a sneeze. He was in follow-up for indolent systemic mastocytosis (ISM), and osteoporosis was treated with bisphosphonate. Owing to neurologic impairment, posterior decompressive laminectomy and thoraco-lumbar fusion with cemented screws were performed. CONCLUSION Vertebral fractures in young patients affected by ISM required a multidisciplinary approach and a careful preoperative planning to achieve acceptable results. These fractures are so rare that even an experienced spine surgeon may not come across them during his whole career. Nevertheless, diagnostic tool improvement makes its diagnosis more frequent, that is why every spine surgeon should know this disease.

The anesthetic management of adult patient with Down syndrome (DS) can be challenging due to poor patient cooperation, age-related comorbidities, and a possible difficult airway. Thoracic anesthesia requires an advanced airway management; thus, treatment of DS patients can be particularly demanding. An accurate preoperative assessment is paramount in order to plan a well-designed perioperative strategy in advance. This report describes the anesthetic management of an adult patient affected by DS who underwent pleural decortication for pleural empyema.

Rheumatoid Arthritis (RA) is an autoimmune based inflammatory pathology with involvement of joints that show early morning stiffness alongwith pain resulting in loss of function. It usually affects females aged 30 years or above. A total of 150 patients of Rheumatoid Arthritis were included in the present study of which 120 were females and 30 males (F:M=4:1). Serological tests were carried out in these patients. These test were analyzed for their sensitivity as well as specificity. Combination of various test were also assessed for their results. The objective ofpresent study is to analyse, age and sex of patient affected by Rheumatoid arthritis; and to determine whether combination of serological tests enhance specificity. as can be seen fmQuantitative Rheumatoidfactor estimation and Anti Rheumatoid antibodies assay gave the maximum specificity of 89.8%. A combination of serological tests is advisable rather than a single diagnostic test. This allows for the early diagnosis of Rheumatoid Arthritis so as to prevent complications by the disease.

The number of aortic stenosis patients in Western countries is increasing, along with better life conditions and expectancies. Presently, the volume of percutaneous transcatheter aortic valve implantations (TAVIs) is incessantly increasing, and has already overcome the surgical replacement procedure volume. According to the literature, TAVI is a feasible procedure even among low surgical risk patients, and American guidelines have extended the indications for TAVI, including shifting patient evaluations from high/low STS scores to old/young patients, a “paradigm shift” of aortic stenosis evaluation. As a result, low-risk young (

Multicentric Osteolysis Nodulosis and Arthropathy (MONA) is an ultra-rare multisystem autosomal recessive disorder characterized by progressive osteolysis, subcutaneous nodules and developing arthropathy. The characteristic radiological signs combined with symptoms resembling juvenile idiopathic arthritis (JIA) set the diagnosis, which is established either by measuring matrix metalloproteinase-2 (MMP-2) enzyme activity through electrophoresis (zymography) or genomic testing. We report the clinical and radiographic findings of a 14-year-old girl with molecularly proven MONA, who presented with painless osteolytic changes of the feet and upper extremities and developed hip arthritis. To this day, no specific therapy has been identified with proven long term relief and control of the disease progression.

Purpose of review To analyze if recommendations given before and during the COVID-19 pandemic are still a valid option for patients suffering of ocular allergy (OA). Recent findings During the last year many doctors and patients requested suggestions for the treatment of OA patients in COVID-19 time. Most of them were given by phone calls and emails following the recommendations given by Scientific Societies. Summary Considering the current multiple problems related to the COVID-19 pandemic, OA has not been considered a priority, even though patients need treatments. Topical antiallergic drugs are still the first option to treat all kind of OA, with the addition of topical corticosteroids in the severe forms of vernal and atopic keratoconjunctivitis (VKC and AKC) even in patients at risk of COVID-19. Topical immunomodulation is still recommended in severe forms of VKC and AKC unless the patient is infected. The number of patients treated with these drugs in our Center was similar than previous years. The risk to have a VKC patient affected by COVID-19 is similar to the general pediatric population but with a lower OR. In 2021, still in COVID-time, the management of OA should follow the previous recommendations with an update due to the risk of infection.

BackgroundSubacute sclerosing panencephalitis is a progressive neurodegenerative disorder caused by a latent and mutant measles virus which is extremely rare in developed countries. The lack of effective treatments leads to the research of other anti-inflammatory and neuroprotective treatments.CaseHere we present a case of a 17-year-old patient affected by subacute sclerosing panencephalitis who manifest a dramatic improvement in neurological and general clinical conditions, as well as an arrest in the progression of demyelinating process in the central nervous system, after the beginning of a high ratio ketogenic diet.ConclusionsGiven its anti-inflammatory, antioxidant and metabolic effects, we believe that ketogenic diet utilisation could be a rational approach, can be considered a safe add-on therapy, carrying on with only a minimal risk of adverse effects or interactions.

Highlights • The case report of a patient affected by locally advanced cervical MRgRT is described. • MRgRT appears to be feasible for cervical cancer and may improve treatment quality. • MRgRT insights are discussed focusing on adaptive response and toxicity monitoring.

Duane syndrome is a rare retraction anomaly characterized by congenital non-progressive horizontal ophthalmoplegia and other systemic signs. No data has been yet registered about oral manifestation of Duane syndrome. In this article we present a six years old male patient was diagnosed as having Duane retraction syndrome. He presented skeletal Class III with both maxillary and mandibular protrusion, counter clock-wise mandibular rotation, lingualized maxillary and mandibular incisors, first mandibular molar agenesis, asymmetric morphology of the mandibular condyles and multiple decay lesions. Posteroanterior x-ray showed an asymmetrical craniofacial structure. The aim of this case report was to describe the oral signs of a patient affected by DRS.

This article, co-authored by a patient affected by chronic obstructive pulmonary disease (COPD) and a respiratory specialist, discusses the patient’s experience of living with the disease and, in particular, the impact of COPD exacerbations on his life. The physician discusses the clinical approach to COPD exacerbations. Together, they provide a call to action to improve the management of COPD exacerbations. Funding AstraZeneca.

Kaposi’s varicelliform eruption (KVE) is a disseminated cutaneous infection usually induced by herpesvirus type 1 or 2, vaccinia virus or Coxsackie A16 virus in a patient with an underlying dermatosis. Risk factors for KVE reported in the literature include erythroderma, systemic sepsis, therapy with immunosuppressants such as methotrexate and systemic steroids, and therapy with systemic retinoids. The occurrence of KVE in psoriasis is rare and it predominantly appears in patients affected by erythrodermic psoriasis during immunosuppressive treatment. We report our experience of a remarkable case of a patient affected by severe erythrodermic psoriasis and KVE that healed after antiviral treatment and after having received secukinumab. After 1 year, psoriasis was cleared and no recurrence of KVE had occurred.

Background Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rarely in visceral anomalies. The only laryngo-tracheal defect reported is malacia, with no reference to any anatomical stenosis. We describe a unique case of laryngo-tracheal stenosis in a woman, with genetically confirmed AMS currently followed at our Department. Case presentation A 37-year-old Caucasian woman was admitted to the intensive care unit for acute dyspnea that required orotracheal intubation followed by tracheostomy. The bronchoscopy revealed abnormal tracheal tissue at the level of the cricoid and the first three tracheal rings reducing airway caliber by 80% (grade III according to the Cotton-Meyer classification). Treatment of the stenosis by means of temporary tracheostomy and corticosteroids therapy resulted in airway patency restoration and patient’s return to her normal activities. Bronchoscopy at four and five months showed disappearance of the abnormal tissue and a residual anatomical laryngo-tracheal stenosis of about 20% (grade I according to the Cotton-Meyer classification) of the normal airway caliber. Conclusions To our knowledge, this is the first patient affected by AMS presenting with laryngo-tracheal stenosis.

“Difficult vascular anatomy” is a challenge for Interventional Radiologists especially in liver directed therapies such as trans arterial radio embolization.Trans arterial radio embolization is a long and difficult procedure in which the basic knowledge of hepatic and gastro-enteric vascularization, with its high degree of variations, is very important in order to correctly administer the therapeutic drug selectively.In this report, we present a case of an atypical patient affected by an unresectable hepatocellular carcinoma, candidate for Radio-embolization treatment.His vascular anatomy was very difficult to manage, but the Interventional Radiologist was not only able to go over the “difficult anatomy,” but also to take advantage of it. Keywords: TARE, HCC, Vascular anatomy, Anatomic variants

Purpose The purpose was to evaluate donor-site clinical morbidity and changes in kinematic gait parameters after the harvest of a vascularized free fibula flap for facial reconstruction. Materials and Methods We enrolled 14 patients (aged 50 ± 15 years) in a longitudinal study. Every patient underwent a double evaluation in which a presurgical assessment and 6-month postsurgical assessment were performed. Subjective donor-site evaluation was carried out through unstructured clinical questioning about pain, paresthesia, walking ability, and restrictions in activity. Further subjective evaluations were assessed through the Western Ontario and McMaster Universities Osteoarthritis Index and the Point Evaluation System for Lower Extremity Fibulectomy. A clinical evaluation of the donor site assessed muscular deficits, sensibility disturbance, and wound healing. Temporal and spatial kinematic parameters were measured through gait analysis during overground walking at a comfortable speed. Results Postsurgical clinical examinations detected 1 patient affected by a neurologic disorder and 3 patients with donor-site pain, whereas 10 patients (71%) declared no residual alterations in the operated leg. On average, the Western Ontario and McMaster Universities Osteoarthritis Index score was 367 of 2,400, and the Point Evaluation System for Lower Extremity Fibulectomy score was 19 of 24. Presurgical versus postsurgical gait analysis comparison showed no significant differences in gait parameters except for a 6% reduction in the double-support phase. Stance values were higher for the operated limb in both evaluations (+1.3% before surgery, +1.8% after surgery). No alterations were detected in the range of motion of the lower-limb joints. Conclusions Considering the slight modification of the gait pattern, which is not usually perceived by patients, vascularized free fibula flap harvest was generally associated with successful functional and subjective outcomes of the donor site.