scholarly journals Key Diagnostic Finding in a Condition with Variable Clinical Presentations

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Anju Sukumaran ◽  
John Buchlis

This is an interesting case series on a very common genetic condition which are often diagnosed late as clinical signs are inconspicuous. We would like to highlight the principal clinical examination finding which led to diagnosis.

Vascular ◽  
2005 ◽  
Vol 13 (5) ◽  
pp. 309-312 ◽  
Author(s):  
Nenad S. Ilijevski ◽  
Dragoslav Đ. Nenezić ◽  
Dragan Sagić ◽  
Đorđe Radak

Popliteal trauma requires particular attention because blood vessel injuries in that zone might cause serious complications. Popliteal traumatic arteriovenous fistula (AVF) should be considered for serious leg amputation, and long-standing fistulae produce cardiac overload. The diagnosis is usually made after clinical examination, finding palpable thrill and audible bruit over the injury site, and is confirmed after duplex ultrasonography and/or angiography. We present a case of popliteal traumatic arteriovenous fistula with false aneurysm (pseudoaneurysm) (PSA), in which duplex ultrasonography and angiography findings proved inconsistent with the findings at surgery, thus resulting in an unnecessary extensive dissection of a major artery and vein, whereas the fistula and the PSA were found in minor vessels (genicular artery and vein).


BMJ Open ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. e035245 ◽  
Author(s):  
Scott L Getsoian ◽  
Surendra M Gulati ◽  
Ikenna Okpareke ◽  
Robert J Nee ◽  
Gwendolen A Jull

ObjectivesNeck pain commonly accompanies recurrent headaches such as migraine, tension-type and cervicogenic headache. Neck pain may be part of the headache symptom complex or a local source. Patients commonly seek neck treatment to alleviate headache, but this is only indicated when cervical musculoskeletal dysfunction is the source of pain. Clinical presentation of reduced cervical extension, painful cervical joint dysfunction and impaired muscle function collectively has been shown to identify cervicogenic headache among patients with recurrent headaches. The pattern’s validity has not been tested against the ‘gold standard’ of controlled diagnostic blocks. This study assessed the validity of this pattern of cervical musculoskeletal signs to identify a cervical source of headache and neck pain, against controlled diagnostic blocks, in patients with headache and neck pain.DesignProspective concurrent validity study that employed a diagnostic model building approach to analysis.SettingHospital-based multidisciplinary outpatient clinic in Joliet, Illinois.ParticipantsA convenience sample of participants who presented to a headache clinic with recurrent headaches associated with neck pain. Sixty participants were enrolled and thirty were included in the analysis.Outcome measuresParticipants underwent a clinical examination consisting of relevant tests of cervical musculoskeletal dysfunction. Controlled diagnostic blocks of C2/C3–C3/C4 established a cervical source of neck pain. Penalised logistic regression identified clinical signs to be included in a diagnostic model that best predicted participants’ responses to diagnostic blocks.ResultsTen of thirty participants responded to diagnostic blocks. The full pattern of cervical musculoskeletal signs best predicted participants’ responses (expected prediction error = 0.57) and accounted for 65% of the variance in responses.ConclusionsThis study confirmed the validity of the musculoskeletal pattern to identify a cervical source of headache and neck pain. Adopting this criterion pattern may strengthen cervicogenic headache diagnosis and inform differential diagnosis of neck pain accompanying migraine and tension-type headache.


2020 ◽  
Vol 13 (12) ◽  
pp. e236019
Author(s):  
Tharun Ganapathy Chitrambalam ◽  
Jeyakumar Sundaraj ◽  
Pradeep Joshua Christopher ◽  
Ramyasree Paladugu

Tuberculosis (TB) of the breast is extremely rare and is often mistaken for benign or malignant lesions of the breast. They are rare even in countries which are endemic for TB, like India. The most common type of clinical presentation is a vague lump in the breast, but there are even other types of presentations which are documented. In olden days, there was a lot of dilemma and challenge in diagnosing TB of the breast, but thanks to improved pathological knowledge and the advent of investigations such as QuantiFERON-TB gold and GeneXpert, TB can be diagnosed early nowadays and treated accordingly. In this study series, we report 10 cases of TB of the breast with variable clinical presentations as fibroadenosis, breast abscess, duct ectasia and breast lump on evaluation, and the challenges encountered in establishing the diagnosis.


2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Hisham A. Almetaher ◽  
Mohammed Awad Mansour

Abstract Background Meckel’s diverticulum (MD) is the commonest congenital abnormality of the gastrointestinal tract that occurs in 2% of general population. It remains asymptomatic, but it may lead to life-threatening complications. These complications may be misdiagnosed with other gastrointestinal disorders like acute appendicitis, making its diagnosis challenging among pediatricians and pediatric surgeons. In this study, we reported five cases with different presentations of complicated MD in children. Results Five patients with different presentations of MD were reported during the period from January 2016 to January 2020. Patients’ demographics, clinical presentations, investigations, operative data, and postoperative outcome were recorded and analyzed. Conclusions The present study highlights different presentations of MD. Surgical interference is the main key of treatment of symptomatic MD either by wedge resection of a small base diverticulum or by resection anastomosis of the small intestine in wide base and inflamed diverticulum.


2020 ◽  
Vol 10 (1) ◽  
pp. 4-10 ◽  
Author(s):  
María Cecilia Ricart ◽  
Sergio Martín Rodríguez ◽  
Roberto Miguel Duré

Background: Laryngeal paralysis, failure of arytenoid cartilage, and vocal fold abduction are commonly seen in older medium to large breed dogs. Observation of laryngeal function in dogs and cats is performed by transoral visualization. There are a variety of surgical techniques; aspiration pneumonia is the most common complication associated with surgical correction of laryngeal paralysis. The aim of this case series is to report on the placement of a laryngeal silicone stent in seven dogs with laryngeal paralysis and its use as an alternative treatment of respiratory distress caused by laryngeal paralysis and/or its use for laryngeal stenosis as complication of laryngeal paralysis surgery.Case description: Seven dogs presented with either episode of gagging, mild-to-severe inspiratory distress, or cyanosis because of a laryngeal paralysis or laryngeal stenosis. In each case, the laryngeal paralysis was diagnosed by direct laryngoscopy. They were treated with a silicone laryngeal stent (Stening®) that substantially improved the clinical signs. Each dog had a different outcome because of other pathologies; however, the laryngeal pathology was successfully treated with the stent.Conclusion: The placement of the laryngeal stent is an easy technique to learn and practice, it could avoid the lifethreatening complications of the laryngeal paralysis at the acute phase, and it could be a noninvasive and long-term alternative therapy for laryngeal paralysis in dogs. The results in these clinical cases are encouraging for considering the laryngeal stent as a therapeutic alternative. Key words: Canine, Polyneuropathy, Prosthesis, Surgery.


2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Moritz Bünger ◽  
Rene Brunthaler ◽  
Christine Unterweger ◽  
Igor Loncaric ◽  
Maximiliane Dippel ◽  
...  

Abstract Background Mycoplasma hyorhinis is an invader of the upper respiratory tract in swine that is considered to have ubiquitous distribution. It is mainly known for causing polyserositis and polyarthritis in weaned piglets, even though the mechanisms of systemic spread are not fully understood. Mycoplasma hyorhinis has also been associated with other diseases in pigs such as pneumonia or otitis media, but so far has not been known to cause central nervous disorders. This case series reports the isolation of Mycoplasma hyorhinis from cerebrospinal fluid and/ or meningeal swabs from piglets originating from four different piglet producing farms in Austria. Case presentation On farm 1, coughing, stiff movement and central nervous signs occurred in nursery piglets. Mycoplasma hyorhinis was the only pathogen isolated from meningeal swabs from two piglets showing central nervous signs. Fibrinopurulent leptomeningitis was only observed in one piglet. Only one of two nursery piglets from farm 2 showed mild central nervous signs but no histologic lesions; Mycoplasma hyorhinis was isolated from cerebrospinal fluid of the piglet with neurologic signs. Mycoplasma hyorhinis was isolated from cerebrospinal fluid of all three investigated piglets from farm 3, all of which showed central nervous signs and purulent leptomeningitis. Further, Streptococcus suis was isolated from the cerebrospinal fluid of one piglet. Fibrinopurulent leptomeningitis was detected in two piglets from farm 4 that had died overnight without showing any clinical signs and Mycoplasma hyorhinis was isolated from meningeal swabs from both piglets. Conclusion While causality has yet to be proven by experimental infection and in situ detection of the pathogen in histologic sections, the findings of this study and the absence of other pathogens suggest Mycoplasma hyorhinis as a potential causative agent of meningitis in swine.


2011 ◽  
Vol 4 (1) ◽  
pp. 17 ◽  
Author(s):  
Konstantinos Vlachos ◽  
Fotis Archontovasilis ◽  
Evangelos Falidas ◽  
Stavros Mathioulakis ◽  
Stefanos Konstandoudakis ◽  
...  

2015 ◽  
Vol 172 (6) ◽  
pp. 803-811 ◽  
Author(s):  
Maya B Lodish ◽  
Bo Yuan ◽  
Isaac Levy ◽  
Glenn D Braunstein ◽  
Charalampos Lyssikatos ◽  
...  

ObjectiveWe have recently reported five patients with bilateral adrenocortical hyperplasia (BAH) and Cushing's syndrome (CS) caused by constitutive activation of the catalytic subunit of protein kinase A (PRKACA). By doing new in-depth analysis of their cytogenetic abnormality, we attempted a better genotype–phenotype correlation of theirPRKACAamplification.DesignThis study is a case series.MethodsMolecular cytogenetic, genomic, clinical, and histopathological analyses were performed in five patients with CS.ResultsReinvestigation of the defects of previously described patients by state-of-the-art molecular cytogenetics showed complex genomic rearrangements in the chromosome 19p13.2p13.12 locus, resulting in copy number gains encompassing the entirePRKACAgene; three patients (one sporadic case and two related cases) were observed with gains consistent with duplications, while two sporadic patients were observed with gains consistent with triplications. Although all five patients presented with ACTH-independent CS, the three sporadic patients had micronodular BAH and underwent bilateral adrenalectomy in early childhood, whereas the two related patients, a mother and a son, presented with macronodular BAH as adults. In at least one patient,PRKACAtriplication was associated with a more severe phenotype.ConclusionsConstitutional chromosomalPRKACAgene amplification is a recently identified genetic defect associated with CS, a trait that may be inherited in an autosomal dominant manner or occurde novo. Genomic rearrangements can be complex and can result in different copy number states of dosage-sensitive genes, e.g., duplication and triplication.PRKACAamplification can lead to variable phenotypes clinically and pathologically, both micro- and macro-nodular BAH, the latter of which we speculate may depend on the extent of amplification.


2021 ◽  
Vol 14 (2) ◽  
pp. e238339
Author(s):  
Sunny Chaudhary ◽  
Subhajit Maji ◽  
Varun Garg ◽  
Vivek Singh

Isolated multidrug-resistant (MDR) tubercular tenosynovitis of the flexor tendons of finger without involvement of wrist is a rare presentation. Tenosynovitis of hand is an uncommon manifestation of extrapulmonary tuberculosis. Pyogenic flexor tenosynovitis of hand is frequently seen and is the closest differential. Non-specific clinical signs may lead to delay in diagnosis, which is often made after biopsy. Management includes surgical excision of necrotic tissue and infected synovium along with antitubercular therapy after histopathological diagnosis. MDR tuberculosis of hand is extremely rare and, to the best of our knowledge, has not been reported in the literature so far. We report an interesting case of MDR tubercular flexor tendon tenosynovitis of the little finger without any pulmonary involvement in an immunocompetent patient. The case was managed by complete synovectomy and second-line antitubercular therapy with complete resolution of disease and had no functional limitation.


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