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The use of operating microscope and rigid telescope in laryngeal surgery represents one of the most exciting advances. Both systems provide good illumination, magnification and relative ease of operation. Microlaryngeal surgery (MLS) with suspension laryngoscope is currently considered the gold standard for surgical approach to the larynx for excision of benign lesions of vocal folds. The limitation of this technique is intubation, general anesthesia (GA) related and in difficult exposure of larynx. The development of ideal anesthetic system has not been successful in satisfying both the surgeon and the anesthesiologist. Fiberoptic Laryngeal Surgery (FLS) is convenient as it avoids GA, is an outpatient procedure with less morbidity and reduced costs. FLS is preferable for the patients who have medical contraindications for general GA. To compare the efficacy of MLS and FLS surgical procedures in terms of functional outcome. This is a comparative clinical study done on 42 patients who were diagnosed to have benign vocal fold pathology. Pre and post-operative speech evaluation was done for all the patients by the same examiner, which included GRABS scale, Maximum Phonation Time, voiced consonants, voiceless consonants, s/z ratio along with stroboscopy. In Group A, MLS was the treatment modality, done under GA, while in Group B, FLS was the treatment modality done under Local Anesthesia (LA). After one-month, post-operative evaluation of voice was done. When the Maximum Phonation Time, S/Z ratio and stroboscopic parameters (mucosal wave) were compared between the two study groups there appeared no statistically significant difference between the two groups. Our study shows that when benign vocal cord pathologies were treated by MLS or FLS the voice Quality improvement remains the same. FLS is the procedure of choice when MLS under general anesthesia is contraindicated.
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Tracheo-oesophageal fistula (TOF) is defined as a pathological connection between the trachea and the oesophagus, leading to a spillover of oral and gastric secretions into the respiratory tract causing aspiration. The cause of TOF may be congenital or acquired. In this case report, a 48 years old female with acquired TOF, has been reported. The patient was on ventilator support for COVID-associated pneumonia and its complication with endotracheal tube for 3 weeks and then tracheostomy was done. Post recovery after weaning from the ventilator, the patient was diagnosed with TOF by bronchoscopy and confirmed by CT and MRI. Surgical closure was performed: the oesophageal defect was sutured in 2 layers and Tracheal wall was isolated and a pedicled strap muscle flap sutured into the defect between the trachea and esophagus. The etiology of TOF may be due to traumatic intubation, cuff pressure, or inflammation. A better knowledge about the cause, site, and size of the TOF will help in prompt surgical procedure and recovery of the patient. This single staged surgical closure can be safely performed in the majority of patients with acquired TOF for optimal outcomes. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-022-03382-w.
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Abstract Introduction Otosclerosis is a common cause of conductive hearing loss in the adult population that is caused by fixation of the stapes footplate. Cochlear otosclerosis may also present with sensorineural or mixed hearing loss. Surgery is the definitive treatment of choice and, during the procedure, sealing of the oval window with autologous tissue graft around the stapes prosthesis has been routinely done to improve hearing outcome and to mitigate postoperative complications. Objectives To evaluate the efficacy of two different types of autologous tissue (vein or fat) grafts as oval window sealing materials in stapedotomy in improving short-term hearing outcomes. Methods In our study, 70 patients with otosclerosis who underwent primary stapedotomy were included. They were divided into group 1 (vein graft) and group 2 (fat graft) based on the type of sealing material used. All patients were followed-up at the end of 3 months, undergoing an audiometric examination to assess the hearing outcome. Results A total of 80% (n = 28) of the patients in group1 had an air-bone gap (ABG) closure < 10dB, and, in group 2, 85.7% had an ABG closure < 10 dB; this difference was found to be statistically insignificant. A total of 42.9% (n = 15) of the patients in group 1 and of 31.4% (n = 11) in group 2 had a significant improvement in bone conduction, while 14.3% (n = 5) of the patients in group 1 and 17.1% (n = 6) in group 2 had worsening of average bone conduction postoperatively, which was found to be statistically insignificant. Conclusions Both vein and fat grafts had comparable effects on hearing outcomes when used as sealing materials in stapedotomy.
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Introduction Otosclerosis is a common cause of conductive hearing loss in the adult population that is caused by fixation of the stapes footplate. Cochlear otosclerosis may also present with sensorineural or mixed hearing loss. Surgery is the definitive treatment of choice and, during the procedure, sealing of the oval window with autologous tissue graft around the stapes prosthesis has been routinely done to improve hearing outcome and to mitigate postoperative complications. Objective To evaluate the efficacy of two different types of autologous tissue (vein or fat) grafts as oval window sealing materials in stapedotomy in improving short-term hearing outcomes. Methods In our study, 70 patients with otosclerosis who underwent primary stapedotomy were included. They were divided into group 1 (vein graft) and group 2 (fat graft) based on the type of sealing material used. All patients were followed-up at the end of 3 months, undergoing an audiometric examination to assess the hearing outcome. Results A total of 80% ( n = 28) of the patients in group1 had an air-bone gap (ABG) closure < 10dB, and, in group 2, 85.7% had an ABG closure < 10 dB; this difference was found to be statistically insignificant. A total of 42.9% ( n = 15) of the patients in group 1 and of 31.4% ( n = 11) in group 2 had a significant improvement in bone conduction, while 14.3% ( n = 5) of the patients in group 1 and 17.1% ( n = 6) in group 2 had worsening of average bone conduction postoperatively, which was found to be statistically insignificant. Conclusion Both vein and fat grafts had comparable effects on hearing outcomes when used as sealing materials in stapedotomy.
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Osteoplastic flap surgery of the frontal sinus is still a relevant surgical technique for frontal sinus pathologies despite advancements in endoscopic techniques due to the complex anatomy of frontal sinus and limitations of endoscopic techniques for certain pathologies. The most crucial step in this surgery is accurate delineation of the frontal sinus pneumatisation which guides the osteotomies and this is conventionally done with radiographs which is not without errors. Here we present three cases where we have utilized image guidance technology for osteoplastic flap surgery of the frontal sinus with superior results.
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To study the various computed tomography (CT) cisternogram findings in idiopathic cerebrospinal fluid (CSF) leaks and the long term treatment modalities after surgical repair of idiopathic CSF leaks. This was a descriptive study conducted among 25 patients in MCV memorial ENT trust hospital, Pollachi between May 2014 and May 2020 amongst patients who underwent CT cisternogram for unilateral or bilateral spontaneous rhinorrhea with or without associated headache, visual disturbances and papilloedema diagnosed to be idiopathic CSF leak by investigations. These patients then underwent CSF leak repair and postoperatively were managed with weight reduction, low salt diet and diuretic therapy. Post surgery these patients were followed up for a period of 12 months and were evaluated on the basis of presence or absence of headache, rhinorrhea and papilloedema at the end of 1st month, 3rd month, 6th month and 1 year and data was collected. CT cisternogram findings were evaluated by proportion method and evaluation of long term management was done using proportion and repeated measures ANOVA for all patients. Evidence of the presence of previously mentioned CT cisternogram or contrast MRI findings at the end of 1 year of post-surgical treatment was recorded where patients were willing for the same. CT Cisternography was done for all patients and 72% patients had empty sella appearance while 28% had partially empty sella. Other findings included perioptic filling, optic blunting and arachnoid pits which were found in 11(44%), 8(32%) and 12(48%) of patients respectively. Only 3(12%) out of 25 patients had an encephalocoele. The commonest site of leak in CT cisternography was the cribriform plate (52%) followed by lateral recess of sphenoid (48%). None of the patients had multiple sites of leak in CT cisternography. On follow up post surgery maximum resolution of symptoms was found at the end of 12 months where 23 out of 25 patients improved. In our study, out of 25 only 5 patients agreed to undergo post diuretic therapy MRI scan out of which 2 patients had partially empty sella and 3 had normal sella indicating resolution of BIH. CT cisternography is an important investigation which aids in the diagnosis of CSF rhinorrhea due to idiopathic intracranial hypertension (IIH). The medical management of IIH post surgery such as weight reduction, salt restriction and diuretic therapy is also crucial to prevent recurrence of symptoms.
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OBJECTIVE: Thyroid status in the months following radioiodine (RI) treatment for Graves' disease can be unstable. Our objective was to quantify frequency of abnormal thyroid function post-RI and compare effectiveness of common management strategies. DESIGN: Retrospective, multicentre and observational study. PATIENTS: Adult patients with Graves' disease treated with RI with 12 months' follow-up. MEASUREMENTS: Euthyroidism was defined as both serum thyrotropin (thyroid-stimulating hormone [TSH]) and free thyroxine (FT4) within their reference ranges or, when only one was available, it was within its reference range; hypothyroidism as TSH ≥ 10 mU/L, or subnormal FT4 regardless of TSH; hyperthyroidism as TSH below and FT4 above their reference ranges; dysthyroidism as the sum of hypo- and hyperthyroidism; subclinical hypothyroidism as normal FT4 and TSH between the upper limit of normal and <10 mU/L; and subclinical hyperthyroidism as low TSH and normal FT4. RESULTS: Of 812 patients studied post-RI, hypothyroidism occurred in 80.7% and hyperthyroidism in 48.6% of patients. Three principal post-RI management strategies were employed: (a) antithyroid drugs alone, (b) levothyroxine alone, and (c) combination of the two. Differences among these were small. Adherence to national guidelines regarding monitoring thyroid function in the first 6 months was low (21.4%-28.7%). No negative outcomes (new-onset/exacerbation of Graves' orbitopathy, weight gain, and cardiovascular events) were associated with dysthyroidism. There were significant differences in demographics, clinical practice, and thyroid status postradioiodine between centres. CONCLUSIONS: Dysthyroidism in the 12 months post-RI was common. Differences between post-RI strategies were small, suggesting these interventions alone are unlikely to address the high frequency of dysthyroidism.
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Doença de Graves , Oftalmopatia de Graves , Hipertireoidismo , Hipotireoidismo , Adulto , Antitireóideos/uso terapêutico , Doença de Graves/radioterapia , Humanos , Hipertireoidismo/radioterapia , Hipotireoidismo/tratamento farmacológico , Radioisótopos do Iodo/uso terapêutico , Estudos Retrospectivos , Tireotropina , Tiroxina/uso terapêuticoRESUMO
Bladder paragangliomas (bPGL) are rare neuroendocrine tumors arising from the sympathetic paraganglia present in the bladder wall. Bladder PGLs are typically submucosal or intramural but when subserosal may not be readily visible at cystoscopy. The average size at presentation is 3.9 cm (range 1.0-9.1 cm). When small, bPGL are usually spherical, well-marginated and homogeneous. Larger bPGL are typically more complex with peri- and intra-tumoral neovascularity and central necrosis. On ultrasound, increased color Doppler signal is typical. The increased soft tissue resolution of MRI enables localization of bPGL within the bladder wall more accurately than CT. Restricted diffusion and avid contrast enhancement help differentiate small bPGLs from leiomyomas, which have similar appearances on ultrasound and CT. Nuclear medicine techniques identify bPGLs and their metastases with high specificity, 68Ga-DOTATATE PET/CT having largely replaced 123I-mIBG SPECT/CT as the first line functional investigation. Imaging is essential to aid surgical planning, as endoscopic resection is often not possible or incomplete due to tumor location. For patients with advanced disease, 68Ga-DOTATATE PET/CT and 123I-mIBG SPECT/CT assess suitability for peptide receptor radionuclide therapy. Up to 63% of bPGL patients have a germline mutation, most commonly in the SDHB subunit gene, increasing their risk of developing pheochromocytomas and further paragangliomas; lifelong annual biochemical and periodic imaging screening from skull base to pelvis is therefore recommended.
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Neoplasias das Glândulas Suprarrenais , Compostos Organometálicos , Paraganglioma , Feocromocitoma , Humanos , Paraganglioma/diagnóstico por imagem , Paraganglioma/genética , Feocromocitoma/genética , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Tomografia por Emissão de Pósitrons , Cintilografia , Bexiga UrináriaRESUMO
OBJECTIVE: Succinate dehydrogenase subunit (SDHx) pathogenic variants predispose to phaeochromocytoma and paraganglioma (PPGL). Lifelong surveillance is recommended for all patients to enable prompt detection and treatment. There is currently limited evidence for optimal surveillance strategies in hereditary PPGL. We aim to detail the clinical presentation of PPGL in our cohort of non-index SDHB and SDHD pathogenic variant carriers. METHODS: Retrospective analysis of medical and genetic records from a single tertiary referral centre identified SDHB or SDHD pathogenic variants in 74 non-index cases (56 SDHB and 18 SDHD). Surveillance screening for asymptomatic relatives consisted of annual plasma metanephrine measurement and whole-body MRI with contrast at 3-5 yearly intervals. RESULTS: Twenty-three out of 74 non-index patients (10 SDHB and 13 SDHD) were diagnosed with PPGL, 17 patients through surveillance screening (24 tumours in total) and 6 diagnosed prior to commencement of cascade screening with symptomatic presentation. MRI with contrast identified PPGL in 22/24 screen-detected tumours and 5/24 tumours had elevated plasma metanephrine levels. Penetrance in non-index family members was 15.2 and 47.2% for SDHB carriers and 71.6 and 78.7% for SDHD carriers at age of 50 and 70 years, respectively. CONCLUSION: Surveillance screening with combined biochemical testing and imaging enables early detection of PPGL in asymptomatic relatives with SDHx pathogenic variants. The presence of disease at first screen was significant in our cohort and hence further multi-centre long-term data are needed to inform counselling of family members undergoing lifelong surveillance.
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The coronavirus disease 2019 (COVID-19) pandemic has generated many challenges for physicians, including multiple post-covid long-term effects that are still being studied. We report a case of patient who developed a retropharyngeal abscess with a concomitant viral pneumonia resembling Covid and its management.
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OBJECTIVES: Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with malignant potential and a hereditary basis in almost 40% of patients. Germline genetic testing has transformed the management of PPGL enabling stratification of surveillance approaches, earlier diagnosis and predictive testing of at-risk family members. Recent studies have identified somatic mutations in a further subset of patients, indicating that molecular drivers at either a germline or tumour level can be identified in up to 80% of PPGL cases. The aim of this study was to investigate the clinical utility of somatic sequencing in a large cohort of patients with PPGL in the United Kingdom. DESIGN AND PATIENTS: Prospectively collected matched germline and tumour samples (development cohort) and retrospectively collected tumour samples (validation cohort) of patients with PPGL were investigated. MEASUREMENTS: Clinical characteristics of patients were assessed and tumour and germline DNA was analysed using a next-generation sequencing strategy. A screen for variants within 'mutation hotspots' in 68 human cancer genes was performed. RESULTS: Of 141 included patients, 45 (32%) had a germline mutation. In 37 (26%) patients one or more driver somatic variants were identified including 26 likely pathogenic or pathogenic variants and 19 variants of uncertain significance. Pathogenic somatic variants, observed in 25 (18%) patients, were most commonly identified in the VHL, NF1, HRAS and RET genes. Pathogenic somatic variants were almost exclusively identified in patients without a germline mutation (all but one), suggesting that somatic sequencing is likely to be most informative for those patients with negative germline genetic test results. CONCLUSIONS: Somatic sequencing may further stratify surveillance approaches for patients without a germline genetic driver and may also inform targeted therapeutic strategies for patients with metastatic disease.
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Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/patologia , Predisposição Genética para Doença , Mutação em Linhagem Germinativa/genética , Humanos , Paraganglioma/patologia , Feocromocitoma/diagnóstico , Estudos RetrospectivosRESUMO
OBJECTIVE: Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients with SDHC variants are underreported. DESIGN: This retrospective case series collated data from 18 UK Genetics and Endocrinology departments. PATIENTS: Both asymptomatic and disease-affected patients with confirmed SDHC germline variants are included. MEASUREMENTS: Clinical data including tumour type and location, surveillance outcomes and interventions, SDHC genetic variant assessment, interpretation, and tumour risk calculation. RESULTS: We report 91 SDHC cases, 46 probands and 45 non-probands. Fifty-one cases were disease-affected. Median age at genetic diagnosis was 43 years (range: 11-79). Twenty-four SDHC germline variants were identified including six novel variants. Head and neck paraganglioma (HNPGL, n = 30, 65.2%), extra-adrenal paraganglioma (EAPGL, n = 13, 28.2%) and phaeochromocytomas (PCC) (n = 3, 6.5%) were present. One case had multiple PPGLs. Malignant disease was reported in 19.6% (9/46). Eight cases had non-PPGL SDHC-associated tumours, six gastrointestinal stromal tumours (GIST) and two renal cell cancers (RCC). Cumulative tumour risk (95% CI) at age 60 years was 0.94 (CI: 0.79-0.99) in probands, and 0.16 (CI: 0-0.31) in non-probands, respectively. CONCLUSIONS: This study describes the largest cohort of 91 SDHC patients worldwide. We confirm disease-affected SDHC variant cases develop isolated HNPGL disease in nearly 2/3 of patients, EAPGL and PCC in 1/3, with an increased risk of GIST and RCC. One fifth developed malignant disease, requiring comprehensive lifelong tumour screening and surveillance.
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Neoplasias das Glândulas Suprarrenais , Carcinoma de Células Renais , Tumores do Estroma Gastrointestinal , Neoplasias Renais , Paraganglioma , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/genética , Feminino , Mutação em Linhagem Germinativa/genética , Humanos , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Paraganglioma/genética , Paraganglioma/patologia , Feocromocitoma/genética , Feocromocitoma/patologia , Estudos Retrospectivos , Succinato Desidrogenase/genética , Succinato Desidrogenase/metabolismo , Reino UnidoRESUMO
Cartilage is used in middle ear surgery for reconstruction of tympanic membrane, ossicular chain, posterior canal wall and lateral attic wall. When used in tympanic membrane reconstruction, thickness of the cartilage is thought to interfere with the sound conduction. In our otology practice for tympanic membrane reconstruction, we prefer the sliced cartilage graft to achieve acoustic benefit. We have used a microdermatome for precise reduction of the thickness of the cartilage. This also allows us to select exact thickness of cartilage slice and also permits slicing from donor site directly. To describe the use of novel method of cartilage slicing using a micro dermatome and to report our preliminary experience. This is a descriptive study, with a total number of 350 cartilage grafts used in tympanoplasty and mastoidectomies have been prepared with micro dermatome from 2019 to 2021. Our study reports the technique of slicing the Conchal cartilage and how its uniform measurement can be obtained. Our modified technique using the micro dermatome is easy to master, provides precise cartilage thickness as per needs within a short span of time. Harvesting from the donor site is as per the graft requirement and rest of the cartilage is left in place for the future revision surgery if needed. The cartilage obtained were structurally integral without any undue breakage and functionally stable. The thickness of the cartilages obtained makes it pliable for easy handling and placement in ear surgeries.
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BACKGROUND: Primary hyperparathyroidism (PHPTH) is a common endocrine disorder and an estimated 10% of cases are hereditary, related to syndromes including; multiple endocrine neoplasia (MEN) type 1, MEN type 4, MEN2A and hereditary hyperparathyroidism-jaw tumour syndrome. Establishing the underlying genetic cause for PHPTH allows for personalized and cost-effective management. Familial hypocalicuric hypercalcaemia (FHH) is a benign disorder of hypercalcaemia associated with an inappropriately low urinary calcium excretion, which is quantified by the calcium creatinine clearance ratio (CCCR). Recent NHS England National Genomic Test Directory testing criteria for familial hyperparathyroidism state testing patients presenting with PHPTH and CCCR > 0.02 presenting (i) <35 years of age, or (ii) <45y with one of (a) multiglandular disease, or (b) hyperplasia on histology, or (c) ossifying fibroma(s) of the maxilla and/ or mandible, or (d) a family history of unexplained PHPTH. The testing criterion for FHH is a CCCR < 0.02. AIMS AND METHODS: A retrospective review of patients referred for genetic testing over a 4 year period for suspected hereditary HPTH was performed. Genetic analysis was performed by next-generation sequencing of the following genes; MEN1, CDC73, CASR, CDKN1A, CDKN1B, CDKN2B, CDKN2C, RET, GCM2, GNA11, and AP2S1 in NHS-accredited Regional Genetic laboratories. Aims of this study were to better define testing criteria for suspected hereditary PHPTH in a UK cohort. RESULTS: A total of 121 patients were included in this study (92 female) with a mean age of 41 years (SD 17). A pathogenic germline variant was identified in 16% (n = 19). A pathogenic variant was identified in the PHPTH genes CDC73 in a single patient and MEN1 in six patients (6% of total), in the FHH genes, CASR in 11 patients and AP2S1 in a single paediatric case (10% of total). A variant of uncertain significance (VUS) was identified in eight patients (6%) but over the course of this study familial segregation studies and computational analysis enabled re-classification of four of the variants, with two VUS's in the CASR gene being upgraded to likely pathogenic variants. Age at diagnosis and multiglandular disease as sole risk factors were not predictive of a pathogenic germline variant in this cohort but a positive family history was strongly predictive (P = .0002). A significant difference in the mean calcium creatinine clearance ratio (CCCR) in those patients with an identified CASR pathogenic variant versus those without (P = .0001) was demonstrated in this study. Thirty-three patients were aged over 50 years and the diagnostic rate of a pathogenic variant was 15.1% in those patients >50 years of age compared to 15.9% in those <50 years. Five patients >50 years and with a CCCR of <0.01, were diagnosed with a pathogenic variant in CASR. CONCLUSION: Family history was the strongest predictor of hereditary PHPTH in this cohort. This study has highlighted the importance of re-evaluating VUS's in order to inform patient management and enable appropriate genetic counselling. Finally, this study has demonstrated the need to consider genetic testing for PHPTH in patients of any age, particularly those with additional risk factors.
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Hipercalcemia , Hiperparatireoidismo Primário , Idoso , Criança , Feminino , Testes Genéticos , Humanos , Hipercalcemia/congênito , Hipercalcemia/genética , Hiperparatireoidismo Primário/genética , Recém-Nascido , Estudos Retrospectivos , Reino UnidoRESUMO
Pheochromocytoma (PC) and paraganglioma (PGL) are rare neuroendocrine tumors that occur throughout the body from the base of the skull to the pelvis. Sympathetic catecholamine-secreting tumors may be associated with hyperadrenergic symptoms and long-term morbidity if they are untreated. Typically biochemically silent, head and neck PGLs may result in cranial nerve palsies and symptoms due to localized mass effect. Tumors can arise sporadically or as part of an inheritable PC-PGL syndrome. Up to 40% of tumors are recognized to be associated with germline mutations in an increasing array of susceptibility genes, including those that appear to arise sporadically. Most commonly, up to 25% of all PC-PGLs are associated with mutations in one of the succinate dehydrogenase (SDH) enzyme subunit genes. The resulting familial PC-PGL syndrome varies according to the affected enzyme subunit (most commonly SDHB and SDHD mutations) with respect to tumor prevalence, location, age of onset, and risk of malignancy. Patients with SDH enzyme mutations have increased lifetime risk of developing multifocal tumors and malignancy. Early recognition of individuals at high risk, genetic testing, screening of family members, and lifelong surveillance programs are recommended, but not without health, economic, and psychologic implications. Anatomic and functional imaging is key to diagnosis, staging, treatment planning, and lifelong surveillance of these individuals. Radiologists must be aware of the imaging appearance of these varied tumors.©RSNA, 2019.
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Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/enzimologia , Paraganglioma/diagnóstico por imagem , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/enzimologia , Succinato Desidrogenase/deficiência , Neoplasias das Glândulas Suprarrenais/genética , Predisposição Genética para Doença , Humanos , Proteínas de Membrana/genética , Proteínas Mitocondriais/genética , Mutação , Paraganglioma/enzimologia , Paraganglioma/genética , Feocromocitoma/genética , Succinato Desidrogenase/genéticaRESUMO
Diabetes comes in many shapes and forms. It is important for the general physician to recognise when clinical characteristics, response to treatment and associated features suggest an alternative variety of diabetes, over and above the traditional type 1 and type 2 forms which are far more common. Key to these suspicions are taking a clear history of the development of the diabetes and being aware of the family history.
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Diabetes Mellitus , Adulto , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/fisiopatologia , Diabetes Mellitus/terapia , Feminino , Humanos , MasculinoRESUMO
CONTEXT: The patient attending with asymptomatic primary hyperparathyroidism (PHPT) is a common occurrence in the outpatient endocrine setting. Indeed, more than 80% of contemporary PHPT patients are considered asymptomatic at diagnosis. A frequent question in clinical practice is at what stage may the patient be offered curative surgery. This may well relate to the duration and the degree of hypercalcemia, evidence of end-organ effects, and whether clear symptoms may or may not be attributable to the underlying condition. OBJECTIVE: There are well-recognized psychological and cognitive changes that can occur in the context of PHPT. A challenge for the clinician is to discern to what extent these symptoms may be present (often very close questioning is required) and how to measure and categorize them. INTERVENTIONS: Assessment can be difficult because patients who have PHPT tend to be more elderly, and they often have other overlapping comorbidities that may cloud the diagnosis. A decision then has to made as to whether such symptoms are likely to be a result of prolonged hypercalcemia, to what extent they can be attributed to the underlying disease, and whether they constitute sufficient weight to warrant surgical intervention in an otherwise "asymptomatic" patient. Practice tends to vary, and some clinicians may undertake watchful waiting or conservative management, whereas others may more readily push for surgical parathyroidectomy as a definitive treatment. We reviewed the literature on the subject of neuropsychological testing in the management of PHPT. POSITIONS: A controversy in clinical endocrinology is how to assess the cognitive, quality of life, and psychological effects of hypercalcemia. Multiple tools are being used, and significant changes have often been demonstrated in such parameters after parathyroidectomy. CONCLUSIONS: We reviewed the latest studies on this subject and assessed the usefulness and validity of such tools in clinical practice, identifying several scores and measures that have been validated in clinical practice; comparisons are made with similar assessments such as the Adult Growth Hormone Deficiency Assessment questionnaire.