scholarly journals Primary Hyperparathyroidism Detected by Parathyroid Incidentaloma: Clinical Features, Work-up and Management

2021 ◽  
Vol 17 (2) ◽  
pp. 219-225
Author(s):  
V Pandzic Jaksic
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Features ◽  
Work Up

scholarly journals Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up

2021 ◽  
Vol 33 (4) ◽  
pp. 311-318
Author(s):  
Lorenz Peters ◽  
Christel Depienne ◽  
Stephan Klebe
Keyword(s):  
Clinical Features ◽  
Neurological Disorders ◽  
Genetic Disorder ◽  
Repeat Expansion ◽  
Myoclonic Epilepsy ◽  
Molecular Characteristics ◽  
Autosomal Dominant Disorder ◽  
Repeat Expansions ◽  
Diagnostic Work ◽  
Work Up

Abstract Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by myoclonus and seizures. The genetic variant underlying FAME is an intronic repeat expansion composed of two different pentamers: an expanded TTTTA, which is the motif originally present at the locus, and an insertion of TTTCA repeats, which is usually located at the 3′ end and likely corresponds to the pathogenic part of the expansion. This repeat expansion has been identified so far in six genes located on different chromosomes, which remarkably encode proteins with distinct cellular localizations and functions. Although the exact pathophysiological mechanisms remain to be clarified, it is likely that FAME repeat expansions lead to disease independently of the gene where they occur. We herein review the clinical and molecular characteristics of this singular genetic disorder, which interestingly shares clinical features with other more common neurological disorders whose etiology remains mainly unsolved.

scholarly journals Spectrum of Benign Breast Diseases in Females- a 10 years study

2018 ◽  
Vol 30 (1) ◽  
pp. 16-18
Author(s):  
Shakera Ahmed ◽  
Anisul Awal
Keyword(s):  
Cohort Study ◽  
Clinical Features ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Age Distribution ◽  
Breast Diseases ◽  
Female Patients ◽  
Benign Breast Diseases ◽  
Mode Of Presentation ◽  
Work Up

The study was conducted to determine the frequency of various benign breast diseases in female patients, to analyze the percentage of incidence of benign breast diseases, the age distribution and their different mode of presentation. This is a prospective cohort study of all female patients visiting a female surgeon with benign breast problems. The study was conducted at Chittagong Metropolitn Hospital and CSCR hospital in Chittagong over a period of 10 years starting from July 2007 to June 2017. All female patients visiting with breast problems were included in the study. Patients with obvious clinical features of malignancy or those who on work up were diagnosed as carcinoma were excluded from the study. The findings were tabulated in excel sheet and analyzed for the frequency of each lesion, their distribution in various age group.Medicine Today 2018 Vol.30(1): 16-18

scholarly journals Presentation, diagnostic assessment and surgical outcomes in primary hyperparathyroidism: a single centre’s experience

2018 ◽  
Vol 7 (10) ◽  
pp. 1105-1115 ◽  
Author(s):  
Laura J Reid ◽  
Bala Muthukrishnan ◽  
Dilip Patel ◽  
Mike S Crane ◽  
Murat Akyol ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Features ◽  
Surgical Outcomes ◽  
Imaging Modality ◽  
Evidence Base ◽  
University Hospital ◽  
Clearance Ratio ◽  
Curative Surgery ◽  
History Of ◽  
Surgical Failure

Objective Primary hyperparathyroidism (PHPT) is a common reason for referral to endocrinology but the evidence base guiding assessment is limited. We evaluated the clinical presentation, assessment and subsequent management in PHPT. Design Retrospective cohort study. Patients PHPT assessed between 2006 and 2014 (n = 611) in a university hospital. Measurements Symptoms, clinical features, biochemistry, neck radiology and surgical outcomes. Results Fatigue (23.8%), polyuria (15.6%) and polydipsia (14.9%) were associated with PHPT biochemistry. Bone fracture was present in 16.4% but was not associated with biochemistry. A history of nephrolithiasis (10.0%) was associated only with younger age (P = 0.006) and male gender (P = 0.037). Thiazide diuretic discontinuation was not associated with any subsequent change in calcium (P = 0.514). Urine calcium creatinine clearance ratio (CCCR) was <0.01 in 18.2% of patients with confirmed PHPT. Older age (P < 0.001) and lower PTH (P = 0.043) were associated with failure to locate an adenoma on ultrasound (44.0% of scans). When an adenoma was identified on ultrasound the lateralisation was correct in 94.5%. Non-curative surgery occurred in 8.2% and was greater in those requiring more than one neck imaging modality (OR 2.42, P = 0.035). Conclusions Clinical features associated with PHPT are not strongly related to biochemistry. Thiazide cessation does not appear to attenuate hypercalcaemia. PHPT remains the likeliest diagnosis in the presence of low CCCR. Ultrasound is highly discriminant when an adenoma is identified but surgical failure is more likely when more than one imaging modality is required.

How to interpret a single cortisol measurement

2020 ◽  
Vol 105 (6) ◽  
pp. 347-351
Author(s):  
Meera Shaunak ◽  
Joanne C Blair ◽  
Justin Huw Davies
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Features ◽  
Diagnostic Utility ◽  
Factors Affecting ◽  
Clinical Scenarios ◽  
Technical Factors ◽  
Work Up ◽  
Result Interpretation

Adrenal insufficiency can present with non-specific clinical features. Therefore, a single cortisol measurement is often included in the biochemical work-up of an unwell child. This article aims to review the diagnostic utility of a single cortisol measurement by outlining the physiological, clinical and technical factors affecting result interpretation. Clinical scenarios are used to illustrate how this test may be used in different commonly encountered situations in general paediatrics, with the aim of minimising the frequency of inconclusive results.

Clinical features and management of primary hyperparathyroidism discovered by parathyroid incidentaloma

2020 ◽  
Author(s):  
Jaksic Vlatka Pandzic ◽  
Ana Majic ◽  
Jelena Andric ◽  
Berkovic Maja Cigrovski ◽  
Srecko Marusic
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Features

EFFECT OF PRIOR NECK RADIATION THERAPY ON CLINICAL FEATURES OF PRIMARY HYPERPARATHYROIDISM AND ASSOCIATED THYROID TUMORS

2003 ◽  
Vol 9 (5) ◽  
pp. 353-362 ◽  
Author(s):  
Behzad Kalaghchi, MD ◽  
Stephen A. Brietzke, MD, FACP, FACE ◽  
Almond J. Drake III, MD, FACP, FACE ◽  
K. M. Mohamed Shakir, MD, FACP, FRCP, FACE
Keyword(s):  
Radiation Therapy ◽  
Primary Hyperparathyroidism ◽  
Clinical Features ◽  
Thyroid Tumors

scholarly journals Evidence Based Solving Approach in Diagnosis of Primary Hyperparathyroidism with Oral Manifestations: Report of Three Unusual Cases

2013 ◽  
Vol 5 (02) ◽  
pp. 113-117 ◽  
Author(s):  
Ruchi Bindal ◽  
Ajay Kumar ◽  
Harkanwal Preet Singh ◽  
Sanjiv Kumar Bansal ◽  
Aadya Sharma
Keyword(s):  
Primary Hyperparathyroidism ◽  
Rare Event ◽  
Evidence Based ◽  
Biochemical Tests ◽  
Osteolytic Lesions ◽  
Changing Trends ◽  
Diagnostic Work ◽  
Radiological Procedures ◽  
Work Up

ABSTRACTPrimary hyperparathyroidism is a common condition that affects 0.3% of the general population in which excessive production of PTH is there. With changing trends it is diagnosed early and asymptomatically with the improvements in routine biochemical tests and radiological procedures. The late bony complications of the disease have therefore started to decline rapidly. The mandible is the predominantly affected site in the maxillofacial area. Maxillary involvement is rare. Here, we reported series of three cases of 30-40-year-old women with osteolytic lesions and bone resorption in maxilla or mandible. Two of presented cases demonstrated evidence of lesions in both mandible and maxilla which is a very rare event. A thorough diagnostic work-up emphasizing on biochemical and radiographic investigations were discussed. We highlighted the role of endocrinologist, oral and maxillofacial surgeons, general practitioner dentists, and radiologists in diagnosing and managing such patients.

scholarly journals Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

1998 ◽  
pp. 557-561 ◽  
Author(s):  
M Fujikawa ◽  
K Okamura ◽  
K Sato ◽  
T Mizokami ◽  
K Tamaki ◽  
...  
Keyword(s):  
Young Adult ◽  
Primary Hyperparathyroidism ◽  
Clinical Features ◽  
Multiple Endocrine Neoplasia ◽  
Adult Onset ◽  
Female Patients ◽  
Endocrine Neoplasia ◽  
Parathyroid Adenomas ◽  
Uterine Polyps ◽  
Familial Hyperparathyroidism

We describe three siblings with hyperparathyroidism due to multiple parathyroid adenomas without evidence of other endocrinological abnormalities. A 22-year-old woman had two parathyroid adenomas complicated by multiple ossifying jaw fibromas. Her sister, aged 29, also suffered from primary hyperparathyroidism associated with two parathyroid adenomas one of which was also suspected to be a carcinoma. These two female patients had unusual multiple small uterine polyps, which were diagnosed as adenomyomatous polyps. Their brother, aged 17, had two parathyroid adenomas complicated by urolithiasis. These three patients are characterized by young adult-onset familial isolated hyperparathyroidism due to multiple adenomas with various complications including ossifying jaw fibroma and uterine adenomyomatous polyps. These clinical features are different from those of familial hyperparathyroidism associated with multiple endocrine neoplasia.

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