Tricky Diagnosis Research Articles

Chronic exertional compartment syndrome – unpicking a tricky diagnosis in primary care

Chronic exertional compartment syndrome – unpicking a tricky diagnosis in primary care

OA02 Hip pain in the young and active patient? Don’t forget FAI

OA02 Hip pain in the young and active patient? Don’t forget FAI

The Non-Invasive Assessment of Circulating D-Loop and mt-ccf Levels Opens an Intriguing Spyhole into Novel Approaches for the Tricky Diagnosis of NASH.

Nonalcoholic fatty liver disease (NAFLD) is the commonest liver disease worldwide affecting both adults and children. Nowadays, no therapeutic strategies have been approved for NAFLD management, and hepatic biopsy remains the gold standard procedure for its diagnosis. NAFLD is a multifactorial disease whose pathogenesis is affected by environmental and genetic factors, and it covers a spectrum of conditions ranging from simple steatosis up to nonalcoholic steatohepatitis (NASH), fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). Several studies underlined the urgent need to develop an NAFLD risk prediction model based on genetics, biochemical indicators, and metabolic disorders. The loss of mitochondrial dynamics represents a typical feature of progressive NAFLD. The imbalance of mitochondrial lifecycle together with the impairment of mitochondrial biomass and function trigger oxidative stress, which in turn damages mitochondrial DNA (mtDNA). We recently demonstrated that the main genetic predictors of NAFLD led to mitochondrial dysfunction. Moreover, emerging evidence shows that variations in the displacement loop (D-loop) region impair mtDNA replication, and they have been associated with advanced NAFLD. Finally, lower levels of mitophagy foster the overload of damaged mitochondria, resulting in the release of cell-free circulating mitochondrial DNA (mt-ccf) that exacerbates liver injury. Thus, in this review we summarized what is known about D-loop region alterations and mt-ccf content during NAFLD to propose them as novel non-invasive biomarkers.

All That Glitter is not Gold: Computed Tomography-Kidney Ureter Bladder (CT-KUB) is not necessary for a Safe Percutaneous Nephrolithotomy

Background: Diagnosis of renal stones is tricky and appropriate diagnosis requires exact location and size identification of renal stones along with the degree of obstruction and hydronephrosis. This study aimed to compare the difference between Ultrasound and Computed tomography Kidney ureter Bladder (CT KUB) groups for stone clearance, diagnostic accuracy, laboratory parameters, and complications. Methods: This is a cross-sectional, comparative effectiveness trial; patients (n=100) with suspected renal stones were randomly assigned with a 1:1 ratio in two different imaging groups, Group A (n=50) participants had ultrasonography and group B (n=50) patients had Computed tomography as a diagnostic imaging modality. The complications and operative differences were compared with the help of student t-test and chi-square tests, a p-value of 0.05 was considered statistically significant. Results: The mean age of the patients was 37.3 ± 17 years and 45.8 ± 14.7 years in group A and group B, respectively. The study found no difference (0.3 and 0.1) between pre-operative stone size measurements of the renal unit by ultrasound and CT [(2.4±0.9 cm and 2.7±1.8cm (right) 1.8±1.0 cm and 1.9±0.7 cm (left)]. The sensitivity and specificity of USG for renal stone diagnosis was 84.8%, while CT indicated 86% accuracy, X-Ray KUB was used for radiopaque stones only and showed 78.6% sensitivity and specificity. Conclusion: The pre-operative stone sizes indicated in ultrasonography and CT were similar in intra-operative, retrograde pyelogram (RPG) measurements, referred to the accuracy of stone size prediction. Simple x-ray and ultrasonography are cost-effective, easily available in hospitals, with minimal radiation exposure. Keywords: Percutaneous Nephrolithotomy; Ultrasonography; Kidney Stones.

Protean Clinical Features and Diagnostic Dilemmas of Pancreatic Tuberculosis

Abstract Tuberculosis (TB) is a systemic disease with protean manifestations and an important health problem. Approximately 15% of cases involve extrapulmonary sites with pancreatic TB (PTB) being rare. Clinically and radiologically, it may mimic a pancreatic malignancy, thus posing a clinical dilemma. The vague symptomatology and lack of clinical findings make it trickier to diagnose. We present a case series of patients with PTB and their tricky diagnosis and management. Endoscopic ultrasound–guided fine needle aspiration cytology along with various ancillary tests were used for the correct diagnosis. Endoscopic ultrasound–guided fine needle aspiration cytology provided the diagnosis, especially with the help of an expert cytologist experienced in the diagnosis of TB, thereby avoiding unnecessary laparotomy. Response to antituberculous therapy for 6 to 12 months is predictable and complete in these patients. Endoscopic ultrasound–guided fine needle aspiration cytology is the modality of choice for diagnosing PTB. However, patients still need to be followed up carefully for subjective and objective response to therapy to rule out the rare possibility of TB coexisting with malignancy, especially in endemic areas.

A Tricky Diagnosis of Complement-Mediated Thrombotic Microangiopathy

A Tricky Diagnosis of Complement-Mediated Thrombotic Microangiopathy

Tricky Diagnosis and Robot-laparoscopic Surgical Approach to Disseminated Peritoneal Leiomyomatosis

To show the challenging diagnosis of, and safe robotic surgical approach to, a rare case of disseminated peritoneal leiomyomatosis (DPL). A clinical case shown by a sequential demonstration of investigation, diagnosis, and surgical approach, with narrated video footage. DPL is a rare disease, with only a little more than 150 cases reported in the literature [1]. It is defined by subperitoneal proliferation of benign smooth muscle cell nodules, macroscopically mimicking peritoneal carcinomatosis [2]. The etiology remains unclear, but different hypotheses have been put forward, such as subperitoneal mesenchymal stem cell metaplasia and iatrogenic origin after myomectomy [3]. Despite its usual benign behavior, DPL can rarely present with malignant degeneration, and therefore a complete resection of multiple lesions is recommended [4]. This case involves a 45-year-old patient presenting with dysmenorrhea, abdominal pain, and major abnormal uterine bleeding, requiring previous blood transfusion and no response after 2 years of clinical treatment. She had a previous cesarean delivery, with no reproductive desire at present and no history of other pelvic surgeries. Pelvic examination showed an enlarged mobile uterus at the height of the pubic symphysis, and both ultrasonography and magnetic resonance imaging confirmed an enlarged uterus due to multiple myomas. (1) Diagnostic laparoscopy with implant biopsies and uterine curettage for investigation of DPL and its differential diagnoses, followed by robot-assisted laparoscopic approach, with key strategies for a safe performance. (2) Radical hysterectomy with bilateral salpingo-oophorectomy, omentectomy, and wide pelvic peritoneal resection were performed. (3) For this complex procedure, the identification and preservation of important landmarks and pelvic anatomy were mandatory, as well as removal of all surgical specimens in monobloc. Final pathology report: disseminated leiomyomatosis with no evidence of malignancy. The patient had no complications after surgery and was discharged on the second postoperative day with mild abdominal pain. DPL diagnosis can be tricky owing to its macroscopic similarity to peritoneal carcinomatosis and the difficulty of identification in imaging examinations. Moreover, the robotic platform can be a helpful and safe tool for the surgical treatment of DPL and complete resection of all peritoneal lesions.

Contrast Transcranial Doppler in Detection of Platypnea-Orthodeoxia Syndrome: A Key Clue for a Tricky Diagnosis

The platypnea-orthodeoxia syndrome (POS) is a rare clinical entity characterized by the development of dyspnea...

Tricky diagnosis of a primary gluteal hydatid cyst

Tricky diagnosis of a primary gluteal hydatid cyst

Squamous Cell Carcinoma of Temporal Bone after Brain Tumor Treatment: A Tricky Diagnosis of a Late Radiotherapy Complication

Primary cancer of the External Auditory Meatus (EAM) is a rare disease, with squamous cell carcinoma (SCC) being the most frequent histological type. The invasion of local tissues occurs in most cases, and its treatment is a challenge due to the complex local anatomy. This report presents the case of a 40-year-old patient who presented with a complaint of chronic otorrhea associated with a mass in EAM and a history of treatment of posterior fossa astrocytoma 17 years ago, treated with neurosurgery followed by radiotherapy.

Preeclampsia for the Nephrologist: Current Understanding in Diagnosis, Management, and Long-term Outcomes.

Preeclampsia is a multisystem progressive disorder of pregnancy that can be potentially catastrophic for the mother and the fetus. It involves complex perturbations of the kidney and systemic physiology, along with long-term effects on vascular and kidney health. Thus, the nephrologist plays a key role in the peripartum and long-term management of preeclampsia. Recent translational research has improved our understanding of its pathophysiology, and there is hope for novel therapies. In this review, we discuss the evolution of diagnostic criteria and dilemmas in the diagnosis of hypertensive disorders in pregnancy. We summarize the advances in the pathogenesis and prediction of preeclampsia. We describe the management and prevention of preeclampsia focusing specially on the forthcoming strategies from the nephrologist's perspective. We address the evidence regarding long-term outcomes for the mother and the child. We end with exploring areas warranting future research.

Tricky Diagnosis and Robot-Laparoscopic Surgical Approach of Disseminated Peritoneal Leiomyomatosis

STUDY OBJECTIVE To show the challenging diagnosis of, and safe robotic surgical approach to, a rare case of disseminated peritoneal leiomyomatosis (DPL). DESIGN A clinical case shown by a sequential demonstration of investigation, diagnosis, and surgical approach, with narrated video footage. SETTING DPL is a rare disease, with only a little more than 150 cases reported in the literature [1]. It is defined by subperitoneal proliferation of benign smooth muscle cell nodules, macroscopically mimicking peritoneal carcinomatosis [2]. The etiology remains unclear, but different hypotheses have been put forward, such as subperitoneal mesenchymal stem cell metaplasia and iatrogenic origin after myomectomy [3]. Despite its usual benign behavior, DPL can rarely present with malignant degeneration, and therefore a complete resection of multiple lesions is recommended [4]. This case involves a 45-year-old patient presenting with dysmenorrhea, abdominal pain, and major abnormal uterine bleeding, requiring previous blood transfusion and no response after 2 years of clinical treatment. She had a previous cesarean delivery, with no reproductive desire at present and no history of other pelvic surgeries. Pelvic examination showed an enlarged mobile uterus at the height of the pubic symphysis, and both ultrasonography and magnetic resonance imaging confirmed an enlarged uterus due to multiple myomas. INTERVENTIONS (1) Diagnostic laparoscopy with implant biopsies and uterine curettage for investigation of DPL and its differential diagnoses, followed by robot-assisted laparoscopic approach, with key strategies for a safe performance. (2) Radical hysterectomy with bilateral salpingo-oophorectomy, omentectomy, and wide pelvic peritoneal resection were performed. (3) For this complex procedure, the identification and preservation of important landmarks and pelvic anatomy were mandatory, as well as removal of all surgical specimens in monobloc. Final pathology report: disseminated leiomyomatosis with no evidence of malignancy. The patient had no complications after surgery and was discharged on the second postoperative day with mild abdominal pain. CONCLUSION DPL diagnosis can be tricky owing to its macroscopic similarity to peritoneal carcinomatosis and the difficulty of identification in imaging examinations. Moreover, the robotic platform can be a helpful and safe tool for the surgical treatment of DPL and complete resection of all peritoneal lesions.

Indolent T-cell lymphoproliferative disorder of the gastrointestinal tract: a tricky diagnosis of a gastric case

BackgroundIndolent T-cell lymphoproliferative disorder of the gastrointestinal tract is a rare low-grade clonal lymphoid proliferation, included as a provisional entity in the current World Health Organization classification. The disease is generally localized to the gastrointestinal tract, mainly small bowel and colon. Involvement of other organs is infrequently reported. The majority of patients show a protracted clinical course with persistent disease. A prolonged survival, even without treatment, is common.Case presentationA 28-year-old woman had a 2-year history of dyspepsia and lactose intolerance. Autoimmune diseases and celiac disease were excluded. No gross lesions were identified by endoscopy. Multiple gastric biopsies showed a small-sized lymphoid infiltrate, expanding the lamina propria, with a non-destructive appearance. The lymphoid cells were positive for CD3, CD4, CD5, CD7 and negative for CD20, CD8, CD56, CD103, PD1, CD30, ALK1, CD10, BCL6, perforin, TIA-1, Granzyme B and Epstein-Barr virus-encoded RNA. KI-67 index was low (5%). Molecular analysis revealed a clonal T-cell receptor γ rearrangement. Bone marrow was microscopically free of disease, but molecular testing identified the same T-cell receptor γ rearrangement present in the gastric biopsies. After the diagnosis of indolent T-cell lymphoproliferative disorder of the gastrointestinal tract, the patient received steroid therapy, only for 2 months. She is alive, with a stable disease restricted to the stomach, at 12 months from diagnosis.ConclusionsIndolent T-cell lymphoproliferative disorder is usually a disease of adulthood (median age: 51 yrs). The small bowel and colon are the sites most commonly involved. Our case occurred in a young woman and affected the stomach, sparing small intestine and colon. Clonality testing identified involvement of bone marrow, a site infrequently affected in this disease. Our aim is focusing on the main diagnostic issues. If appropriate immunostainings and molecular analysis are not performed, the subtle infiltrate may be easily overlooked. The risk of misdiagnosis as more aggressive lymphomas, causing patient overtreatment, needs also to be considered.

Fasciola hepatica in a country of low incidence: a tricky diagnosis.

Fasciola hepatica is a foodborne trematode present worldwide. Definitive hosts are mostly ruminants such as cattle and sheep, as well as humans. In Switzerland, Fasciola infection in humans is rare. Unfortunately, many patients are likely to undergo multiple unnecessary investigations before the parasite is suspected and fascioliasis diagnosed, especially if symptoms are unspecific. Retrospective analysis of all patients diagnosed with Fasciola hepatica at the University Hospital of Bern between 2005 and 2018. Diagnosis was positive if a positive serology and/or eggs in stool samples correlated with clinical presentation (symptoms and/or imaging). Patients were excluded if serology was weakly positive and another diagnosis more likely. Personal data, laboratory results, imaging, proposed treatment and outcome were collected from patient files. Sixty patients had a positive serology during this time period. Forty-seven of them had a more plausible alternative diagnosis and were not included in the study, leaving 13 patients for analyses; 46.2% (6/13) were male, mean age was 45.8 years old (range, 17-80 years old). Four patients (4/13, 30.8%) were asymptomatic, nine (9/13, 69.2%) presented with symptoms ranging from right upper quadrant abdominal pain (44.4%) and generalized pruritus (33.3%) to weight loss and night sweats (33.3%). The mean duration of symptoms until correct diagnosis was 8.9 months (range, 1-48 months). Five patients (5/13, 38.5%) had documented eosinophilia, four (4/13, 30.8%) elevated liver enzymes and seven (7/13, 53.8%) elevated cholestasis parameters. Mean antibody level on serology was 88 AU/mL (range, 3-134 AU/mL). Ultrasound was used most frequently (7/13, 53.8%), followed by magnetic resonance imaging (4/13, 30.8%), computed tomography and endoscopic retrograde cholangiopancreatography (3/13, 23.1%). The most common findings were bile duct dilatation, followed by hepatic lesions. Treatment consisted of Triclabendazole 10 mg/Kg. One patient needed a second treatment course for persistent disease. There were no recurrences. With a low incidence of Fasciola hepatica in Switzerland, correct diagnosis is often substantially delayed. Raising awareness among Swiss physicians is paramount, and a higher level of suspicion necessary when confronted with unspecific symptoms or liver imaging, thus avoiding a long delay in diagnosis, as well as unnecessary tests.

Mesenteric hernia: A tricky diagnosis of bowel obstruction in adults

Mesenteric hernia is a frequent cause of intestinal obstruction in childhood but is exceptional in the adult. We describe a case in a young adult without any remarkable history who presented with an acute abdomen and intestinal obstruction.

Spigelian Hernias – A Tricky Diagnosis but Easy Management: A Case Report

Spigelian Hernias – A Tricky Diagnosis but Easy Management: A Case Report

All disease begins in the gut: Celiac disease co-existence with SLE.

Case reports and case series have indicated a possible association between celiac disease (CD) and systemic lupus erythematosus (SLE), but additional population-based studies are required. The true prevalence of CD in SLE patients is still unknown, but is indeed an important factor when considering the clinical implications, notably the necessity of screening strategies in SLE patients. Our objective was to investigate the association between CD and SLE using a community-based approach in a real-life population database. Patients with SLE were compared with age- and sex-matched controls regarding the prevalence of CD in a case-control study. Chi-square and t-tests were used for univariate analysis and a logistic regression model was used for multivariate analysis. The study was performed utilizing the medical database of Clalit Health Services. The study included 5018 patients with SLE and 25,090 age- and sex-matched controls. The prevalence of CD was significantly higher in patients with SLE than in controls in univariate analysis (0.8% and 0.2%, respectively, p<0.001). Also, SLE was associated with CD (OR 3.92, 95% CI 2.55-6.03, p<0.001) in a multivariate logistic regression model. Patients with SLE had a greater prevalence of CD than matched controls in a large case-control study. A complex combination of genetic, immunological and novel environmental factors may explain this positive association. Physicians should keep in mind that CD can be a tricky diagnosis in SLE patients, yet a treatable condition, probably more common in this population than we used to think.

Invasive Fungal Infection by Hormographyella aspergillata: A Tricky Diagnosis Triggered by (1,3)-Beta-D-Glucan Assay

We report on a pulmonary infection caused by the basidiomycete Hormographiella aspergillata. For the first time, (1,3)-beta-D-Glucan serum levels were monitored and they progressively increased during the development of clinical symptoms of infection. This assay and subsequent molecular analysis resulted essential for accurate identification and indication of proper antifungal therapy.

Atlanto-axial erosion as the presenting manifestation of systemic tuberculosis: a tricky diagnosis in western countries

Atlanto-axial erosion as the presenting manifestation of systemic tuberculosis: a tricky diagnosis in western countries

Malignant porocarcinoma of the nail fold: A tricky diagnosis

Malignant eccrine porocarcinoma is a rare tumor of sweat glands with a high local recurrence rate and a tendency to metastatic spread. We present a case of a 77-year-old male patient that presented with a recurrent, periungual porocarcinoma mimicking onychomycosis and ingrown toe nail that was successfully treated by surgical excision. To our knowledge no such case has been described in this location in the English literature.