scholarly journals DIAGNOSIS OF ENDOCRINE DISEASE: Diagnostic approach to TSH-producing pituitary adenoma

2017 ◽  
Vol 177 (4) ◽  
pp. R183-R197 ◽  
Author(s):  
Axel Tjörnstrand ◽  
Helena Filipsson Nyström
Keyword(s):  
Rare Condition ◽  
Diagnostic Approach ◽  
Laboratory Assessment ◽  
Pituitary Mass ◽  
Endocrine Disease ◽  
Clinical Presentations ◽  
Practical Suggestion ◽  
Tsh Secretion ◽  
Diagnostic Approaches ◽  
Inappropriate Tsh Secretion

Thyrotropin (TSH)-secreting adenomas (TSHomas) are the rarest form of pituitary adenomas, and most endocrinologists will see few cases in a lifetime, if any. In most cases, the diagnostic approach is complicated and cases may be referred after being presented as a syndrome of inappropriate TSH secretion or as a pituitary mass. This review aims to cover the past, present and possible future diagnostic approaches to TSHomas, including different clinical presentations, laboratory assessment and imaging advances. The differential diagnoses will be discussed, as well as possible coexisting disorders. By evaluating the existing reports and reviews describing this rare condition, this review aims to present a clinically practical suggestion on the diagnosic workup for TSHomas, Major advances and scientific breakthroughs in the imaging area in recent years, facilitating diagnosis of TSHomas, support the belief that future progress within the imaging field will play an important role in providing methods for a more efficient diagnosis of this rare condition.

scholarly journals Superior Mesenteric Artery Syndrome: A Worldwide Descriptive Study with Literature Review

2016 ◽  
Vol 4 (2) ◽  
pp. 50-54
Author(s):  
Ruhidayati Awaludin ◽  
Hazimah Ab Rahim ◽  
Dg. Syazana Arivai ◽  
Mostafa Refaie Elkeleny
Keyword(s):  
Superior Mesenteric Artery ◽  
Mesenteric Artery ◽  
Rare Condition ◽  
Superior Mesenteric Artery Syndrome ◽  
Time Interval ◽  
Presenting Symptoms ◽  
Clinical Presentations ◽  
Choice Of Treatment ◽  
Long Term Follow Up ◽  
Microsoft Office

Background: Superior mesenteric artery syndrome is best described as compression of the third part of duodenum by the superior mesenteric artery, resulting in obstruction. This rare condition has been studied for decades yet remains obscure. This study aimed to analyze different clinical presentations, diagnostic modalities, treatment approaches and outcomes of this condition. Methods: Thirty-five superior mesenteric artery syndrome cases were collected retrospectively from a Facebook group called “Superior Mesenteric Artery Syndrome Awareness & Support”. A questionnaire was designed using Google Forms to obtain the demographics, presenting symptoms, risk factors and co-morbidities, investigations, means of treatment and the outcomes. Data was entered into Microsoft Office Excel for statistical analysis. Results: The median age at diagnosis was 22 years. The median body mass index was 20.8 kg/m2. The median time interval from symptom onset to initial diagnosis was 22 months. The major presenting symptoms were abdominal pain (82.9%), nausea (77.1%), and vomiting (65.7%). Abdominal computed tomography scan with contrast (82.9%) was commonly used for confirmation of diagnosis. Thirteen cases (37.1%) were congenital. Thirty patients (85.7%) had received treatment. The overall management success was only 13.3%. Surgical management (34.3%) was the most commonly used regimen. Conclusion: Diagnosis of superior mesenteric artery syndrome is established after a thorough assessment of the clinical presentations and confirmed with suitable imaging modalities. The choice of treatment should be dependent on the causes and severity as different patients respond differently to therapy. Recurrence is possible in all patients, and a long-term follow up is thus required.

Intravenous lobular capillary haemangioma presenting as neck discomfort associated with neck anteflexion

2021 ◽  
Vol 14 (1) ◽  
pp. e237529
Author(s):  
Kotaro Ikeda ◽  
Toshihisa Ichiba ◽  
Kazunori Seo ◽  
Yuji Okazaki
Keyword(s):  
Histopathological Examination ◽  
Rare Condition ◽  
Pyogenic Granuloma ◽  
Capillary Haemangioma ◽  
Contrast Enhanced Ct ◽  
Contrast Enhanced ◽  
Clinical Presentations ◽  
Enhanced Ct ◽  
Left Neck ◽  
Left Subclavian Vein

Lobular capillary haemangioma, also known as pyogenic granuloma, is a benign vascular tumour that usually originates in the skin and mucosal membrane. It sometimes derives from the lumen of a vein and the clinical presentations are various and non-specific. A 72-year-old woman complained of a sensation of pressure in her left neck for 1 month when cooking. Her left cephalic vein was enlarged with no signs of oedema, and cervical ultrasound revealed a space-occupying lesion in the left subclavian vein. Contrast-enhanced CT and MRI revealed an intravascular tumour. This tumour was removed with operation, and histopathological examination revealed intravascular capillary haemangioma. Intravascular lobular capillary haemangioma is a rare condition that occurs in the veins of the neck and upper extremities. Intravascular tumours could cause a unique symptom, such as neck discomfort associated with neck anteflexion.

Breast and endocrine surgery

2014 ◽  
Author(s):  
Asmaa Al-Alaak
Keyword(s):  
Treatment Options ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Breast Disease ◽  
Endocrine Surgery ◽  
Endocrine Disease ◽  
Surgical Disease ◽  
Clinical Presentations ◽  
Basic Facts ◽  
Clinical Signs And Symptoms

One of the main ‘complaints’ about breast disease is that ‘it is all so similar’ and that there are lots of treatment options which can seem confusing at first. The key to understanding breast disease and preparing for questions about it is to keep the basic facts about breast anatomy and pathology to the forefront, learn to recognize key patterns of clinical signs and symptoms, and then match them to the clinical scenario. The EMQs are particularly useful at practising fitting questions into clinical patterns and rehearsing the patterns. Endocrine disease poses its own challenges. Even for a surgeon it is important to understand and recognize the underlying biochemistry and how this affects the clinical presentations. Endocrine surgical disease is much less about anatomy or surgical procedures themselves as it is about understanding how treatment is matched to the pathophysiology of the conditions.

Primary ovarian insufficiency in an adolescent population: clinical phenotype and diagnostic approach

2019 ◽  
Vol 32 (9) ◽  
pp. 979-985
Author(s):  
Alfonso Hoyos-Martinez ◽  
Luis R. Hoyos ◽  
Metee Comkornruecha ◽  
Alejandro Diaz
Keyword(s):  
Clinical Phenotype ◽  
Fragile X ◽  
Clinical Information ◽  
Rare Condition ◽  
Primary Ovarian Insufficiency ◽  
Diagnostic Approach ◽  
Ovarian Insufficiency ◽  
Adolescent Population ◽  
Autoimmune Conditions ◽  
Reproductive Counseling

Abstract Background Primary ovarian insufficiency (POI) can be seen in adolescents secondary to genetic or autoimmune conditions, or gonadotoxic therapies. Often times, its underlying cause is not identified. It is a rare condition in pediatrics, but a thorough evaluation is required for a timely diagnosis and optimizing outcomes. Objectives We aim to describe the clinical phenotype of idiopathic POI in an adolescent population seen in a referral center, and evaluate its diagnostic approach. Methods All patients evaluated between 2012 and 2018 were identified using the diagnostic codes for POI. Medical records were manually reviewed and clinical information was extracted. Cases were excluded from the final sample if they were found to have incomplete diagnostic information, Turner syndrome, eating disorders, gonadal surgeries and/or a history of oncological conditions or treatments. Results Forty-eight patients with POI were identified, and only seven met the established criteria. Anti-ovarian and anti-thyroid antibodies were evaluated in 100% and 86%, respectively, while only 29% were tested for anti-adrenal autoimmunity. The karyotype was obtained consistently, while the fragile X mental retardation 1 (FMR1) gene expansion was only assessed in approximately a third of the patients. Finally, only 29% of patients received reproductive counseling or referral to a fertility specialist. Conclusions Diagnostic evaluation for POI appears to be challenging to pediatric providers. Anti-ovarian antibodies are frequently obtained despite the lack of their clinical significance in POI, while anti-adrenal antibodies, which are the preferred diagnostic test, are not commonly obtained. Reproductive orientation or referral is seldom provided to the adolescent population.

scholarly journals Host Immune Response and Novel Diagnostic Approach to NTM Infections

2020 ◽  
Vol 21 (12) ◽  
pp. 4351
Author(s):  
Yuko Abe ◽  
Kiyoharu Fukushima ◽  
Yuki Hosono ◽  
Yuki Matsumoto ◽  
Daisuke Motooka ◽  
...  
Keyword(s):  
Immune Response ◽  
Immune Responses ◽  
Humoral Immunity ◽  
Diagnostic Approach ◽  
Post Transplantation ◽  
Diagnosis And Management ◽  
Immunological Responses ◽  
Host Immune Responses ◽  
Diagnostic Approaches ◽  
Proper Diagnosis

The incidence and prevalence of non-tuberculous mycobacteria (NTM) infections are steadily increasing worldwide, partially due to the increased incidence of immunocompromised conditions, such as the post-transplantation state. The importance of proper diagnosis and management of NTM infection has been recently recognized. Host immunological responses play integral roles in vulnerability to NTM infections, and may contribute to the onset of specific types of NTM infection. Furthermore, distinct NTM species are known to affect and attenuate these host immune responses in unique manners. Therefore, host immune responses must be understood with respect to each causative NTM species. Here, we review innate, cellular-mediated, and humoral immunity to NTM and provide perspectives on novel diagnostic approaches regarding each NTM species.

scholarly journals MECHANISMS IN ENDOCRINOLOGY: Hypophysitis: diagnosis and treatment

2018 ◽  
Vol 179 (3) ◽  
pp. R151-R163 ◽  
Author(s):  
Mamta N Joshi ◽  
Benjamin C Whitelaw ◽  
Paul V Carroll
Keyword(s):  
Imaging Techniques ◽  
Immunosuppressive Agents ◽  
Treatment Strategies ◽  
Rare Condition ◽  
Diagnostic Value ◽  
Serum Markers ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Mass ◽  
Pituitary Antibodies

Hypophysitis is a rare condition characterised by inflammation of the pituitary gland, usually resulting in hypopituitarism and pituitary enlargement. Pituitary inflammation can occur as a primary hypophysitis (most commonly lymphocytic, granulomatous or xanthomatous disease) or as secondary hypophysitis (as a result of systemic diseases, immunotherapy or alternative sella-based pathologies). Hypophysitis can be classified using anatomical, histopathological and aetiological criteria. Non-invasive diagnosis of hypophysitis remains elusive, and the use of currently available serum anti-pituitary antibodies are limited by low sensitivity and specificity. Newer serum markers such as anti-rabphilin 3A are yet to show consistent diagnostic value and are not yet commercially available. Traditionally considered a very rare condition, the recent recognition of IgG4-related disease and hypophysitis as a consequence of use of immune modulatory therapy has resulted in increased understanding of the pathophysiology of hypophysitis. Modern imaging techniques, histological classification and immune profiling are improving the accuracy of the diagnosis of the patient with hypophysitis. The objective of this review is to bring readers up-to-date with current understanding of conditions presenting as hypophysitis, focussing on recent advances and areas for future development. We describe the presenting features, investigation and diagnostic approach of the patient with likely hypophysitis, including existing conventional techniques and those in the research/development arena. Hypophysitis usually results in acute and persistent pituitary hormone deficiency requiring long-term replacement. Management of hypophysitis includes control of the inflammatory pituitary mass using a variety of treatment strategies including surgery and medical therapy. Glucocorticoids remain the mainstay of medical treatment but other immunosuppressive agents (e.g. azathioprine, rituximab) show benefit in some cases, but there is a need for controlled studies to inform practice.

Variation in Presentation, Diagnosis, and Management of Children and Adolescents With ADHD Across European Countries

2015 ◽  
Vol 22 (10) ◽  
pp. 911-923 ◽  
Author(s):  
Juliana Setyawan ◽  
Moshe Fridman ◽  
Regina Grebla ◽  
Valerie Harpin ◽  
Lisa M. Korst ◽  
...  
Keyword(s):  
Treatment Modality ◽  
European Countries ◽  
Diagnostic Approach ◽  
Adhd Symptoms ◽  
Diagnosis And Management ◽  
Treatment Switching ◽  
Diagnostic And Statistical Manual ◽  
The United Kingdom ◽  
Diagnostic Approaches ◽  
Clinical Records

Objective: To characterize differences in presentation, diagnosis, and management of children/adolescents with ADHD in six European countries. Method: Physicians abstracted clinical records for patients aged 6 to 17 years, diagnosed from 2004 to 2007 and treated for ≥2 years. Documentation included impairment due to core ADHD symptoms and additional ADHD symptoms/behaviors at diagnosis, diagnostic approach, and treatment modality. Results: Study included 779 patients treated by 340 physicians. Prevalence of ADHD subtypes (inattention, hyperactivity/impulsivity, or combined) was similar across countries. Mean scores for core and noncore symptom impairment varied and were highest in Italy and the United Kingdom. Variability was noted in diagnostic approach; 95% of physicians in the Netherlands used Diagnostic and Statistical Manual of Mental Disorders (4th edition) criteria versus 10% in Germany. Differences were reported for initial treatment modality, treatment switching, and physician-reported treatment outcomes. Conclusion: European countries varied in diagnostic approaches and practice management of children/adolescents with ADHD.

Necrobiotic xanthogranuloma of the parotid gland

2009 ◽  
Vol 124 (5) ◽  
pp. 569-571 ◽  
Author(s):  
A Zainal ◽  
M Y Razif ◽  
M Makhashen ◽  
M Swaminathan ◽  
A Mazita
Keyword(s):  
Radiation Therapy ◽  
Parotid Gland ◽  
Rare Condition ◽  
Needle Aspiration ◽  
Histopathological Diagnosis ◽  
Aspiration Cytology ◽  
Fine Needle ◽  
Clinical Presentations ◽  
Warthin’S Tumour ◽  
Needle Aspiration Cytology

AbstractObjectives:To highlight the first reported case of necrobiotic xanthogranuloma of the parotid gland. We also review the clinical presentations and treatments for this rare condition.Method:Case report and review of necrobiotic xanthogranuloma.Results:A 48-year-old man presented with a right parotid mass. Fine needle aspiration cytology was suggestive of Warthin's tumour, for which the patient underwent a subtotal parotidectomy. The final histopathological diagnosis was necrobiotic xanthogranuloma.Conclusions:Necrobiotic xanthogranuloma may clinically mimic commoner tumours such as Warthin's tumour. Once diagnosed, the clinician should be wary of extracutaneous manifestations and paraproteinaemias. Because of the variability of presentation, there is no consensus on the best treatment for necrobiotic xanthogranuloma, which may include surgery, chemotherapy, interferon, plasmapheresis and radiation therapy.

Cotard’s Delusion: A Clinical and Conceptual Overview

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
T. Rodrigues ◽  
M. Passos ◽  
H. Pereira
Keyword(s):  
Severe Depression ◽  
Rare Condition ◽  
Classification Systems ◽  
Clinical Presentations ◽  
Jules Cotard ◽  
Underlying Mechanisms ◽  
The Moment ◽  
Conceptual Overview ◽  
The Universe ◽  
Current Systems

Background:In 1880, the French neurologist Jules Cotard described a specific kind of nihilistic delusion which the patient believed that she no longer existed. Since then, this rare condition known as Cotard's Syndrome or Cotard's Delusion (CD) has intrigued clinicians and investigators.Aims:To present CD's features, including historical, clinical, etiopathological, and treatment issues.Method:Case report of a 49-year-old woman with fully developed CD; review of the literature.Results:There is still a considerable debate concerning the nature of this phenomenon - whether it should be conceptualized as a psychiatric symptom or as a syndromatic entity.CD may appear in different severity levels, and most authors accept the idea of a spectrum of clinical presentations, ranging from the belief of loosing intellectual capacities to the extreme belief of non-existence of life and the universe.This manifestation has been identified in patients with distinct diagnosis, mostly in severe depression, but also in schizophrenia and psycho-organic syndromes.Treatment should be chosen according to the underlying pathology.Conclusion:Over the last few years, new contributions from neuropsychological and imaging studies have brought interesting approaches to understand CD's underlying mechanisms. At the moment, CD does not fit clearly into any category of the current systems of classification. Future investigations should address the pathophysiological nature of CD and its place in the new, etiopathologically-oriented, classification systems.

scholarly journals HEPATIC LYPHOMA: TWO CASES REPORT

2021 ◽  
Vol 9 (10) ◽  
pp. 722-727
Author(s):  
Mohammed Najih ◽  
◽  
Mohamed Bouzroud ◽  
El Mehdi Aboulfeth ◽  
Sidi Mohamed Bouchentouf ◽  
...  
Keyword(s):  
Rare Condition ◽  
Large Cell ◽  
Initial Diagnosis ◽  
Treatment Modalities ◽  
Pathological Examination ◽  
Palpable Mass ◽  
Lymphatic Organ ◽  
Clinical Presentations ◽  
The Right ◽  
Middle Aged Adults

Introduction: Hepatic lymphoma is defined as primary when there is an attack on the liver without affecting the spleen, the bone marrow or another lymphatic organ. The primary hepatic attack is a very rare variant estimated at 1% of all extra lymphomas. Case report: We report two cases, the first concerning a patient aged 65 years, without pathological history, admitted for chronic abdominal pain associated with a febrile syndrome, the initial diagnosis revealed a liver tumor at the level of segment I. The patient was operated, the pathological examination of an extemporaneous biopsy concluded to a primitive lymphoma of the liver. The patient was referred to oncology for chemotherapy. Her evolution was satisfactory with a 2-year follow-up. The second patient, 50 years old, without notable pathological history, admitted for generalized jaundice, the physical examination reports a palpable mass in the right hypochondrium. The initial diagnosis revealed the presence of a process involving segment I of the liver, an echo endoscopy showed several mesenteric celiomentaladenopathies and a main biliary tract with stenosis, a sphincterotomy was scheduled, an anatomopathological examination with complementary immunohistochemical study showed a diffuse large cell B lymphoma and the patient was referred to the oncology department. Discussion: Lymphomas of the liver is a rare condition. They predominate in middle- aged adults and males. Clinical presentations are diverse. Radiological aspects and biological disturbances are variable. Treatment modalities are variable, combining surgery, chemotherapy and radiotherapy. Conclusion: The diagnosis of lymphomas of the liver is difficult. The therapeutic decision must take into account the extent of the disease, the general condition of the patient. Chemotherapy remains the cornerstone of treatment.

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