Syndrome Presenting Research Articles

Peripheral nerve injuries in the performing artist.

Dancers and musicians have unique physical demands that can lead to injury of the peripheral nerves. Specific dance movements and specific instrument positions, combined with countless hours of practice and repetition, create an environment for potential nerve injury. Familiarity with these variables and recognition of the common presentations of neuropathic syndromes are essential in the evaluation of a performing artist with a suspected peripheral nerve injury. Assessment should include an understanding and analysis of their dance style or instrument playing posture, particularly in the position or motion that recreates the symptoms if possible. Practice and performance schedules should also be considered. Diagnosis may require electrodiagnostic testing, imaging, or diagnostic injections. Treatment should be comprehensive and may include modifications in practice schedule, posture/position, and technique in addition to consideration of medications, splints/orthoses, physical therapy, and injections. The instructor/teacher should be involved in the treatment plan if applicable. Complete rest in this population may not be realistic or necessary. Early and accurate diagnosis of nerve injury is important for safe return to dance or instrumental music.

Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer

It is estimated that 153,020 cases of CRC per year, with an increase in diagnoses in younger patients. We present a case of a female with an early presentation of Lynch Syndrome and CRC, who, on her third malignant presentation, was re-diagnosed as a constitutional mismatch repair deficiency.

Wolff-Parkinson-White Syndrome in the Preterm Neonate.

Wolff-Parkinson-White (WPW) syndrome is a rare cardiac condition arising from abnormal embryologic development of the annulus fibrosus in combination with the cardiac conduction system. The abnormality results in the development of accessory pathways and preexcitation changes which can provoke episodes of tachyarrhythmias. The most common presentation of WPW syndrome is supraventricular tachycardia. Beyond customary abortive therapy, chronic management strategies vary based upon timing and clinical severity of the initial disease presentation. Prompt diagnosis and rate control have a dramatic impact on the outcomes of morbidity and mortality. The purpose of this article is to present a case study of a preterm infant who manifested with WPW syndrome. Additionally, the article will explore the pathophysiology of WPW syndrome and the timing and presentation of common clinical manifestations of the disease, along with current diagnostic and treatment strategies to achieve optimal patient outcomes in the neonatal population.

Investigating the overlapping presentation of irritable bowel syndrome and vulvodynia: a scoping review of the evidence and mechanisms.

Vulvodynia is a complex and multifactorial medical condition characterized by pain in the vulvar area without any identifiable cause. Vulvodynia is underdiagnosed, leading to increased risk of sexual dysfunction and reduced quality of life. Irritable bowel syndrome (IBS) is a gastrointestinal disorder predominantly affecting women. Vulvodynia and IBS frequently co-occur in women, with a 2- to 4-fold increased likelihood of IBS diagnosis in those with vulvodynia. These conditions may share underlying causes, highlighting the need for research to better understand their shared pathophysiology and develop effective therapeutics. The aim of this scoping review was to assess the evidence of simultaneous presentation of IBS and vulvodynia. A comprehensive search was conducted in 6 databases between inception of database and August 2023: PubMed, Web of Science, Scopus, Science Direct, Google Scholar, and Cochrane Library. Studies included primary research about IBS and vulvodynia in terms of presentation overlap, diagnosis, or treatment. Data were extracted from eligible studies, summarized, and collated. Of the 306 unique articles identified, 33 were included in the final analysis: 20 cross-sectional studies, 4 case-control studies, 2 case reports, 4 cohort studies, 2 quasi-experimental studies, and 1 randomized trial. Common themes included a high prevalence of overlapping vulvodynia and IBS with a significant diagnostic delay in vulvodynia, mast cell involvement and visceral hypersensitization as common pathophysiology, and the need for a multimodal treatment. Our review adds to the evidence that there is an association between vulvodynia and IBS. Despite this, research on the underlying molecular mechanisms of this association is scarce, and diagnostic delays persist for vulvodynia. Increasing awareness of the overlap of these conditions will improve screening for vulvodynia in the patient population with IBS, thereby improving the diagnostic delay, and understanding the pathophysiology will enable treatment strategies that address both conditions.

Posterior Reversible Encephalopathy Syndrome presenting in late postpartum eclampsia challenging differential diagnosis

Posterior Reversible Encephalopathy Syndrome presenting in late postpartum eclampsia challenging differential diagnosis

Temporal Trends of Acute Coronary Syndrome Presentations and Percutaneous Coronary Intervention in Older Australians: A 20-Year Statewide Population-Linkage Study

Temporal Trends of Acute Coronary Syndrome Presentations and Percutaneous Coronary Intervention in Older Australians: A 20-Year Statewide Population-Linkage Study

Clinical and biochemical data for the diagnosis of endogenous hypercortisolism: the "Cushingomic" approach.

The clinical presentation of Cushing's syndrome (CS) overlaps with common conditions. Recommended screening tests are serum cortisol after 1-mg overnight dexamethasone suppression test (DST), urinary free cortisol (UFC), and late-night salivary cortisol (LNSC). We analyzed the diagnostic accuracy of screening tests in 615 patients without CS (263 suspected CS, 319 adrenal and 33 pituitary incidentaloma) and 40 with CS. Principal component analysis, K-means clustering, and neural network were used to compute an integrated analysis among tests, comorbidities, and signs/symptoms of hypercortisolism. The diagnostic accuracy of screening tests for CS was high, DST and UFC were slightly superior to LNSC. The threshold of DST should be adapted to the population considered, especially in adrenal incidentaloma with mild autonomous cortisol secretion: the cutoff to differentiate CS should be increased to 196 nmol/L. Diabetes, hypertension, and obesity were more common in patients without CS: the direction of their vectors was not aligned and their correlation with screening tests was poor. Clustering allowed us to differentiate those patients without CS in cluster one (aged osteoporotic patients with impaired screening tests), cluster two (hypertensive and metabolic phenotype), and cluster three (young subjects with a low likelihood of overt CS). A neural network model that combined screening tests and clinical presentation was able to predict the CS diagnosis in the validation cohort with 99% precision and 86% accuracy. Despite the high diagnostic accuracy of screening tests to detect CS, cortisol-related comorbidities or adrenal incidentaloma should be considered when interpreting a positive test.

Eagle syndrome presentation and outcomes in a large surgical case series.

The purpose of this study is to describe both the common and uncommon symptoms associated with Eagle syndrome and share our experience treating a large group of patients with surgical intervention, primarily intraoral excision of the calcified stylohyoid ligament. This retrospective case series included 56 patients at least 18 years of age or older with a diagnosis of Eagle syndrome. All operations were conducted by a single surgeon at a tertiary medical center from 2015 to 2022. Charts were reviewed for demographics, prior medical/surgical history, symptoms, imaging results, operative details, and follow-up history. A phone survey inquired about presenting symptoms and symptom resolution following surgery. The most common areas of pain were the ear (64.3%), underneath the angle of the mandible (50%), throat (46.4%), and neck (30.4%). Over 70% of patients reported tinnitus, dysphagia, and pain that were exacerbated by head rotation. Fifty-one of the 56 patients underwent surgical treatment, 92.2% via intraoral and 7.8% via cervical approaches. All patients (100%) reached in a phone survey stated that their symptoms resolved or improved after surgery. Eagle syndrome typically presents with common symptoms. However, healthcare providers must also be vigilant for less common manifestations, such as seizures or episodes of dizziness/fainting. These may be caused by calcification of the stylohyoid ligament. Intraoral surgical resection of the calcified ligament is a safe and effective treatment for most patients. Level 4.

Sheehan’s syndrome presenting with panhypopituitarism and central diabetes insipidus: a case report

BackgroundSheehan’s syndrome is a rare condition, which is classically characterized by anterior pituitary hypofunction following postpartum shock or hemorrhage. While diabetes insipidus (DI) is not commonly associated with Sheehan’s syndrome, we present a rare case of a multiparous female developing rapid-onset panhypopituitarism and DI following severe postpartum hemorrhage.Case presentationA previously healthy 39-year-old woman, gravida 5, para 4, presented with hypovolemic shock after vaginal delivery, attributed to severe postpartum hemorrhage, necessitating emergent hysterectomy. Although her shock episodes resolved during hospitalization, she developed intermittent fever, later diagnosed as adrenal insufficiency. Administration of hydrocortisone effectively resolved the fever. However, she subsequently developed diabetes insipidus. Diagnosis of Sheehan’s syndrome with central diabetes insipidus was confirmed through functional hormonal tests and MRI findings. Treatment consisted of hormone replacement therapy, with persistent panhypopituitarism noted during a ten-year follow-up period.ConclusionsSheehan’s syndrome is a rare complication of postpartum hemorrhage. Central diabetes insipidus should be suspected, although not commonly, while the patient presented polyuria and polydipsia. Besides, the potential necessity for long-term hormonal replacement therapy should be considered.

Laparoscopic management of constellation of syndromes (Mullerian Aplasia, VACTERL and Klippel Feil) presenting with torsion of Hemorrhagic Ovarian Cyst

Laparoscopic management of constellation of syndromes (Mullerian Aplasia, VACTERL and Klippel Feil) presenting with torsion of Hemorrhagic Ovarian Cyst

Late-onset Schmidt's Syndrome Presenting with Severe Hyponatremia: A Case Report.

Schmidt's syndrome (SS) is a subtype of polyglandular autoimmune syndrome type-2 combining autoimmune thyroiditis (AIT) and autoimmune Addison's disease (aAD). It occurs most frequently in young adult females, and aAD is the most common initial manifestation [1]. We present a rare case of SS with late-onset aAD and severe hyponatremia as the first sign. A 73-year-old woman presented to the emergency department (ED) with a 10-day history of vomiting, diarrhea, and altered mental status. Her past medical history was remarkable for AIT and hypokinetic cardiomyopathy. Moreover, she had recently undergone a 2-week course of corticosteroid therapy for vertiginous symptoms, reporting subjective well-being. In ED, she appeared confused and hypotensive. Blood tests revealed a sodium level of 99 mEq/l with normal potassium. Initial treatment with saline infusions were started, followed by ex juvantibus intravenous hydrocortisone awaiting hormone results, which proved consistent with primary adrenal insufficiency (ACTH 1314 pg/ml, cortisol 4.72 ug/dL). Replacement therapy with both hydrocortisone and fludrocortisone was then implemented, with substantial clinical improvement and normalization of sodium levels. However, the patient later developed right heart failure and hypokalemia, which were likely caused by overreplacement and resolved after adjusting the treatment regimen. The final diagnosis of aAD was confirmed by positive adrenal autoantibodies. aAD should be suspected in each case of severe hyponatremia [2], especially in patients with AIT independent of age. Furthermore, caution is needed in managing high-dose glucocorticoids along with fludrocortisone in elderly patients with cardiac disease to limit the risk of excessive mineralocorticoid activity and heart failure [3].

An unusual presentation of empty sella syndrome in oral and maxillofacial surgery: A case report

An unusual presentation of empty sella syndrome in oral and maxillofacial surgery: A case report

Severe digital ischaemia as a presentation of antisynthetase syndrome

Severe digital ischaemia as a presentation of antisynthetase syndrome

Atrial Arrhythmia and Bradycardia as a Presentation of Congenital Long QT Syndrome.

We present a term newborn with atrial arrhythmia on the first day of life (DOL). An echocardiogram showed normal structure and normal function; laboratory testing showed normal electrolytes and thyroid function. After initiation of flecainide, the EKG on DOL 2 showed significant and increasing bradycardia with atrial arrhythmia and extremely prolonged QTc interval. Flecainide was stopped and esmolol started. After 6h of treatment, atrial tachycardia was suppressed, and the rhythm converted to sinus. Genetic testing found variants of unknown significance in the ALPK3 gene and KCNQ1 gene, which has been associated with long QT syndrome (LQTs). LQTs in infants can present as bradycardia, 2:1 AV block, or torsades de pointes. Our review of the literature found only one other case report of atrial arrhythmia in a newborn with congenital LQTs.Diagnosis of LQTs via EKG alone is difficult in neonates since the ST segment and T wave on the first DOL are usually flattened, making correct measurement of the QTc interval difficult. β-blockers, the first line of treatment for LQTs, are known to shorten QTc intervals and prevent arrhythmia events. As in our patient, β-blockers may be helpful for atrial arrhythmia prevention in patients with adrenergically mediated atrial tachycardia.In conclusion, atrial arrhythmia with bradycardia can be a presentation of congenital LQTs and be difficult to recognize. For neonates with this presentation with no evidence of myocarditis, congenital heart disease, or significant respiratory illness, genetic congenital LQTs should be highly suspected, especially when associated with low resting heart rates.

CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS.

Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still unclear. Moreover, the possible associations of different CYP21A2 gene polymorphisms with metabolic and reproductive abnormalities in PCOS have not been investigated. Therefore, the present study aims to examine the prevalence of the most common CYP21A2 pathogenic variant IVS2-13A/C>G (c.293-13A/C>G) in Eastern European women with PCOS and to evaluate the associations between common intron 2 genetic polymorphisms and the clinical symptoms of the patients. Sixty consecutively recruited women with PCOS were genotyped for the CYP21A2 intron 2 IVS2-13A/C>G genetic variant. Additionally, CYP21A2 intron 2 polymorphic variants rs6453 (c.293-44G>T), rs6451 (c.293-67C>A/G), rs369651496 (c.293-104del), and rs6474 (c.308G>A/p.R103L) were tested and described. The clinical and hormonal characteristics were compared in women with PCOS and with polymorphic and wild-type genotypes. The heterozygous CYP21A2 pathogenic variant IVS2-13A/C>G was found in one of the investigated PCOS patients (1.67%) with a non-hyperandrogenic type of PCOS. The presence of the rs6453 (c.293-44G>T) T-allele was associated with increased levels of DHEAS (15.18 vs. 9.14 µmol/L, p = 0.003) compared to the wild-type genotype in the investigated group. The rs6451 (c.293-67C>A/G) minor alleles were associated with an earlier age of menarche in the patients (12.0 vs. 13.0 years, p = 0.007). The polymorphic rs369651496 minor 6G allele was related to a better lipid profile in the women with PCOS, while the rs6474 variant modulated the blood pressure of the patients. The presence of CYP21A2 genetic minor alleles of rs6467 (IVS2-13A/C, c.293-13A/C), rs6453 (c.293-44G>T), rs6451 (c.293-67C>A/G), rs369651496 (c.293-104del), and rs6474 (c.308G>A/p.R103L) might modulate the adrenal androgens, age of menarche, and metabolic features in women with PCOS. Further studies on 21-hydroxylase genetic variants (pathogenic and polymorphisms) in different ethnic groups might help reveal the influence of adrenal steroidogenesis on PCOS development, clinical manifestations, and lifelong cardiovascular risks.

Neuroleptic malignant syndrome presenting without hyperthermia: A case report of an atypical presentation

Neuroleptic malignant syndrome (NMS) is a life-threatening complication of antipsychotic medications. NMS is characterized by four key symptoms: Changes in mental status, muscular rigidity, hyperthermia, and autonomic dysfunction. Despite its key clinical symptoms, which are easily recognizable in a classic presentation, NMS occasionally does not present with all the described clinical characteristics. Atypical presentations of NMS pose a diagnostic conundrum for clinicians, leading to late recognition and treatment of a potentially treatable life-threatening condition. We present a case of NMS presenting without hyperthermia and autonomic instability but with elevated creatine kinase.

Eisenmenger syndrome presenting with chronic thromboembolic disease

Eisenmenger syndrome is characterized by the reversal of blood flow due to increased pulmonary vascular resistance. It can be prevented with early diagnosis and surgical treatment. Thromboembolism is a leading cause of death in patients with Eisenmenger syndrome. Pulmonary endarterectomy is the primary treatment, but medical treatments may be considered in inoperable cases. Regular follow-up and a multidisciplinary approach are important for diagnosis and treatment. Lifestyle changes and medical therapy can improve patient's quality of life and prevent complications. Our case is presented because of the chronic thromboembolic disease in addition to the pulmonary hypertension due to the partial atrioventricular septal defect and the management of the treatment.

Fatal Fat Embolism Syndrome after Upper Limb Fracture: A Clinical Rarity

Fat embolism syndrome is a serious complication of long bone fractures; it is the consequence of the dissemination of fatty particles in the microcirculation. There is no pathognomonic clinical sign of this clinical entity. The positive diagnosis is based on Gurd's criteria. Management is essentially symptomatic. Severe forms can be fatal. We report an uncommon presentation of fat embolism syndrome after fracture of a long bone of the upper limb. The interest of the case is twofold: diagnostic and prognostic.

Complex regional pain syndrome presenting as a lump in the abdomen following post-pneumonectomy: An unusual case presentation.

Complex regional pain syndrome presenting as a lump in the abdomen following post-pneumonectomy: An unusual case presentation.

Comparison of the Clinical Manifestations of Acute Coronary Syndrome Between Diabetic and Non-diabetic Patients: A Systematic Review and Meta-Analysis.

The presentation of acute coronary syndrome (ACS) in patients with type 2 diabetes mellitus (T2DM) may differ from that of non-diabetic patients, potentially leading to delayed diagnosis and treatment. This meta-analysis aimed to compare the clinical presentation of ACS between diabetic and non-diabetic patients. A systematic search of PubMed, Excerpta Medica database (EMBASE), and Web of Science databases was conducted for observational studies published from January 2010 onwards. Studies comparing ACS symptoms between diabetic and non-diabetic patients were included. The odds ratio (OR) with 95% confidence intervals (CI) was calculated using a random-effects model. Eight studies with a total of 29,503 patients (23.03% diabetic) were included. Diabetic patients were significantly less likely to present with chest pain compared to non-diabetic patients (OR: 0.43, 95% CI: 0.30 to 0.63, p<0.001). Anxiety (OR: 2.20, 95% CI: 1.17-4.14), shortness of breath (OR: 1.49, 95% CI: 1.11-2.01), and neck pain (OR: 1.62, 95% CI: 1.03-2.54) were significantly more common in diabetic patients. Sweating/cold sweat was less common in diabetics (OR: 0.60, 95% CI: 0.34-1.07), though not statistically significant. Other symptoms showed minimal differences between groups. High heterogeneity was observed across studies for most symptoms. This meta-analysis demonstrates that diabetic patients with ACS are less likely to experience typical chest pain and more likely to present with atypical symptoms such as anxiety, shortness of breath, and neck pain. These findings emphasize the need for healthcare providers to maintain high vigilance for atypical ACS presentations in diabetic patients. Tailored diagnostic approaches, modified triage protocols, and enhanced patient education are crucial to improving the timely diagnosis and treatment of ACS in this high-risk population.