scholarly journals Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study

2018 ◽  
Vol 2018 (1) ◽  
Author(s):  
Louise Apperley ◽  
Urmi Das ◽  
Renuka Ramakrishnan ◽  
Poonam Dharmaraj ◽  
Jo Blair ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Single Centre

Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Sarar Mohamed ◽  
Edna F. Roche ◽  
Hilary M.C.V. Hoey
Keyword(s):  
Turner Syndrome ◽  
Clinical Presentation ◽  
Chromosomal Abnormalities ◽  
Ring Chromosome ◽  
Delayed Puberty ◽  
Single Centre ◽  
Important Indicator ◽  
Single Centre Experience ◽  
Wide Range ◽  
Chromosome Material

AbstractAge at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.This was a retrospective evaluation of the clinical and laboratory records of patients with TS.Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases.Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.

scholarly journals Mode of clinical presentation and delayed diagnosis of turner syndrome

2015 ◽  
Author(s):  
Louise Apperley ◽  
Urmi Das ◽  
Renuka Ramakrishnan ◽  
Poonam Dharmaraj ◽  
Jo Blair ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Clinical Presentation ◽  
Delayed Diagnosis

G439 Mode of clinical presentation and delayed diagnosis of turner syndrome

2016 ◽  
Vol 101 (Suppl 1) ◽  
pp. A259-A260
Author(s):  
LJ Apperley ◽  
U Das ◽  
R Ramakrishnan ◽  
P Dharmaraj ◽  
J Blair ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Clinical Presentation ◽  
Delayed Diagnosis

scholarly journals Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yu-Liang Jiang ◽  
Xiao-Dong Xu ◽  
Bai-Rong Li ◽  
En-Da Yu ◽  
Zi-Ye Zhao ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Novel Mutation ◽  
Delayed Diagnosis ◽  
Personal History ◽  
Pathological Examination ◽  
The Novel ◽  
Novel Mutations ◽  
The Family ◽  
Genetic Level ◽  
Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

ACROMEGALY UNVEILED DURING A NASAL RECONSTRUCTION SURGERY: A CASE REPORT

2021 ◽  
pp. 66-68
Author(s):  
Kiran Shah ◽  
Ishant Bhanarkar ◽  
Vasavdatta Sharma ◽  
Durvesh Bhangale ◽  
Vinod Pawara ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Somatic Growth ◽  
Care Physician ◽  
Nasal Reconstruction ◽  
Thyroid Function Tests ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
New Diagnosis ◽  
Gh Excess

Acromegaly is a condition of excessive somatic growth and distorted proportion due to hypersecretion of growth hormone(GH) and insulin-like growth factor 1 (IGF-1). Insidious clinical manifestation of GH excess as a result of GH-secreting pituitary adenoma renders acromegaly a disease with typically delayed diagnosis. We report a 29-year old male planned to undergo reconstruction of the nose. The patient was referred for medical tness. Given the clinical features consistent with acromegaly the patient was evaluated further for diagnosis. Laboratory investigation showed raised IGF-1and non-suppressed GH post 75gms glucose, amid normal cortisol, corticotropin(ACTH), prolactin, testosterone, and thyroid function tests. He did not have dysglycemia. Magnetic resonance imaging (MRI) of the pituitary revealed a pituitary macroadenoma consistent with acromegaly. This case highlights the notable absence of recognizing the clinical presentation of acromegaly in this patient by his medical care physician and surgeons, and therefore the importance of thorough history taking, attention, and observation in making a new diagnosis that has the potential to alter a patient's health care and alleviate impending complications, morbidity and/or mortality

scholarly journals Erratum to “Clinical Presentation and Long-Term Outcomes of Systemic Sclerosis Portuguese Patients from a Single Centre Cohort: A EUSTAR Registration Initiative”

2018 ◽  
Vol 31 (9) ◽  
pp. 520
Author(s):  
Carolina Vidal ◽  
Carina Ruano ◽  
Vera Bernardino ◽  
Pedro Lavado Carreira ◽  
Ana Lladó ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Clinical Presentation ◽  
Long Term Outcomes ◽  
Single Centre ◽  
Espírito Santo ◽  
Espirito Santo ◽  
De Medicina

Article published with errors: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10658On page 312, where the authors’ line reads as:Carolina VIDAL1, Carina RUANO2, Vera BERNARDINO3, Pedro LAVADO CARREIRA3, Ana LLADÓ3, Maria Céu SANTOS4, Heidi GRUNER3, António PANARRA3, Nuno RISO3, Maria Francisca MORAES-FONTESAC,1It should read:Carolina VIDAL1,2, Carina RUANO3, Vera BERNARDINO1, Pedro LAVADO CARREIRA1, Ana LLADÓ1, Maria Céu SANTOS4, Heidi GRUNER1, António PANARRA1, Nuno RISO1, Maria Francisca MORAES-FONTESAC,1 On the same page, where the authors’ affiliation on the footer reads as:Serviço de Medicina Interna. Hospital do Divino Espírito Santo de Ponta Delgada. São Miguel. Portugal.Serviço de Radiologia. Hospital de Santa Marta. Centro Hospitalar de Lisboa Central. Lisboa. Portugal.Unidade de Doenças Auto-Imunes/Serviço Medicina 7.2. Hospital de Curry Cabral. Centro Hospitalar de Lisboa Central. Lisboa. Portugal.Laboratório de Imunologia. Centro Hospitalar de Lisboa Central. Lisboa. Portugal. It should read:Unidade de Doenças Auto-Imunes/Serviço Medicina 7.2. Hospital de Curry Cabral. Centro Hospitalar de Lisboa Central. Lisboa. Portugal.Serviço de Medicina Interna. Hospital do Divino Espírito Santo de Ponta Delgada. São Miguel. Portugal.Serviço de Radiologia. Hospital de Santa Marta. Centro Hospitalar de Lisboa Central. Lisboa. Portugal.Laboratório de Imunologia. Centro Hospitalar de Lisboa Central. Lisboa. Portugal.  

scholarly journals Chiari I Malformation Associated with Turner Syndrome

2017 ◽  
Vol 08 (02) ◽  
pp. 277-280 ◽  
Author(s):  
Kamble Jayaprakash Harsha ◽  
Jeevan S. Nair
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Turner Syndrome ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Chiari I Malformation ◽  
Resonance Imaging ◽  
Cough Headache ◽  
First Case ◽  
Chiari I

ABSTRACTTurner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan’s syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

scholarly journals Concurrent Van der Woude syndrome and Turner syndrome: A case report

2017 ◽  
Vol 5 ◽  
pp. 2050313X1668791 ◽  
Author(s):  
Evan Los ◽  
Hayley Baines ◽  
Ines Guttmann-Bauman
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Delayed Diagnosis ◽  
Chromosome 1 ◽  
Pituitary Insufficiency ◽  
Van Der Woude Syndrome ◽  
Unique Case ◽  
Second Sex ◽  
Interferon Regulatory Factor 6

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

scholarly journals Management of Abdominal Tuberculosis in a Community-Based Hospital From a High-Income Developing Country

2021 ◽  
Author(s):  
Hussam Mousa ◽  
Saleh Abdel-Kader ◽  
Fikri Abu-Zidan
Keyword(s):  
United Arab Emirates ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Abdominal Tuberculosis ◽  
Diagnostic Methods ◽  
Diagnostic Tools ◽  
Therapeutic Trial ◽  
Al Ain ◽  
Chest X Ray ◽  
Immunological Assays

Abstract Background: The delayed diagnosis and management of abdominal tuberculosis increases its mortality. We aimed to study the clinical presentation, management, and outcome of patients who had abdominal tuberculosis and treated at Al-Ain Hospital, Al-Ain City, United Arab Emirates.Methods: All patients who had abdominal tuberculosis and treated at Al-Ain Hospital between January 2011 and December 2018 were studied. Data were collected retrospectively using a structured protocol including demography, clinical presentation, diagnostic methods, management, and outcome. Results: Twenty-four patients having a median age of 30 years were studied with an incidence of 0.6/100,000 population. The most common symptoms were abdominal pain (95.8%) and malaise (79.2%). Fever was present only in nine patients (37.5%). Laboratory investigations, except the polymerase chain reaction immunoassay, were not helpful. Chest X-ray was abnormal in three patients (12.5%). Ultrasound and abdominal CT scan were nonspecific. Thirteen patients needed surgical intervention for diagnosis or therapy. Diagnosis was confirmed by histopathology in 15 patients (62.5%), immunological assays in 7 patients (29.2%), microbiological culture in one patient (4%), and therapeutic trial in one patient (4%). The most common type of abdominal tuberculosis was gastrointestinal in 13 patients (54.2%) followed by free wet peritonitis in five patients (20.8%). All patients had quadruple anti-tuberculous therapy for a minimum of six months. The median hospital stay was 6.5 days. None of our patients died. Conclusions: Diagnosis of abdominal tuberculosis remains challenging despite advancements in medical technology and diagnostic tools. The low percentage for the need for diagnostic therapy in our study supports the benefit of PCR assay. Surgery was mainly indicated as the last option to reach the diagnosis or to treat complications.

scholarly journals APPENDICEAL MUCOCOELE WITH PARTIAL NON ROTATION OF GUT – A RARE CASE REPORT

2020 ◽  
pp. 1-2
Author(s):  
Shirish Bhagvat ◽  
Nikhil Dhimole
Keyword(s):  
Abdominal Pain ◽  
Rare Case ◽  
Patient Management ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Laparoscopic Approach ◽  
Intermittent Abdominal Pain ◽  
Atypical Clinical Presentation ◽  
Rare Case Report

Mucocoele of appendix and partial non-rotation of gut are rare pathological entities, and when they are present together they pose diagnostic and therapeutic difficulties due to atypical clinical presentation. This dilemma of varied clinical presentation can lead to delayed diagnosis and complications, thereby adversely affecting patient management and outcome. We report a 33 year old lady, presenting with intermittent abdominal pain in the periumbillical since 3 months diagnosed to have an appendiceal mucocoele with partial non rotation of gut on imaging. The patient underwent laparoscopic appendectomy and was discharged on post operative day 1 following an uneventful course with no recurrence on 6 months of follow up. Histopathology of the specimen confirmed the diagnosis of mucocoele of appendix with no evidence of malignancy. To our knowledge, this is the first reported case of mucocoele of appendix with partial non rotation of gut managed with minimally invasive laparoscopic approach.

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