Comprehensive Diagnostic Workup Research Articles

Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient

Patients with inflammatory bowel disease (IBD) are at risk of developing malnutrition, severe dystrophic muscle weakness, and muscle atrophy. We present a case of a 33-year-old male patient who exhibited concurrent muscle atrophy, muscle weakness, diarrhea, and mucopurulent bloody stools. Notably, the patient reported that his household or family members experienced similar symptoms of muscle weakness, without any apparent neurological or psychiatric manifestations. The patient’s intestinal symptoms were most consistent with ulcerative colitis, while the muscle weakness originated from dysferlinopathy following a comprehensive diagnostic work-up. The patient was initiated on vedolizumab therapy and L-carnitine therapy, and his symptoms improved after 1 month of follow-up. This case study underscores the necessity for clinicians to maintain a high level of suspicion for the presence of concomitant diseases when encountering IBD patients with muscle weakness. This approach is essential for achieving an early diagnosis and treatment.

Practical guide for the diagnosis and treatment of localized and generalized cutaneous pruritus (chronic itch with no underlying pruritic dermatosis).

Itch, also known as pruritus, is one of the most prevalent symptoms observed in dermatological practices. Itch frequently arises from primary pruritic dermatoses, although it may also manifest in the absence of a primary pruritic skin rash. The latter itchy condition is referred to as "cutaneous pruritus" in the Japanese guidelines published in 2020. Cutaneous pruritus can be classified into two categories based on its distribution: localized cutaneous pruritus and generalized cutaneous pruritus. Localized cutaneous pruritus is indicative of a neuropathic cause, whereas generalized cutaneous pruritus suggests underlying systemic disease(s), drug-induced itch, psychogenic itch (also known as functional itch disorder), or chronic pruritus of unknown origin (CPUO). Systemic diseases associated with cutaneous pruritus include disorders of iron metabolism, chronic kidney disease, chronic liver disease (especially cholestasis), endocrine/metabolic diseases, hematological disorders, and malignant solid tumors. CPUO is a term used to describe chronic itch that is often generalized and for which no underlying cause can be identified despite a comprehensive and careful diagnostic workup. A variety of treatment approaches are available for cutaneous pruritus, including device-based physical therapies (such as phototherapy) and medications that act on the itch-perception processing pathway from the skin, peripheral sensory nerves, the spinal cord, to the brain. This review presents an overview of the current knowledge regarding cutaneous pruritus, from its underlying pathophysiologic mechanisms to the diagnostic procedures and treatment approaches that are currently available.

Role of echocardiography-derived pulmonary to systemic flow ratio in diagnosing aortopulmonary window: A case report

<b>Background: </b>Aortopulmonary window (APW) is a rare congenital cardiac anomaly characterized by abnormal communication between the ascending aorta and the main pulmonary artery. Without early surgical correction, this condition has a poor prognosis. However, few case reports have described adult survival of patients with untreated APW.<br /> <b>Case presentation: </b>We report the case of a 15-year-old girl who developed irreversible pulmonary hypertension due to untreated APW. Initially, we suspected the presence of an extracardiac shunt using a simple calculation of the echocardiography-derived pulmonary-to-systemic flow (Qp/Qs) ratio during a routine echocardiography study, which provided us with a clue to proceed with further multimodal diagnostic evaluation. In this report, we describe a comprehensive diagnostic workup, including right heart catheterization and computed tomography imaging, which confirmed the diagnosis of severe irreversible pulmonary hypertension secondary to a large untreated APW.<br /> <b>Conclusion: </b>This case report highlights the clinical utility of the echocardiography-derived Qp/Qs ratio as a valuable, noninvasive tool for diagnosing APW, which can lead to severe irreversible pulmonary hypertension. The multidisciplinary approach demonstrated in this case serves as a valuable example for clinicians evaluating similar cases. Therefore, APW should be considered in the differential diagnosis of severe pulmonary hypertension, even in adult patients.

Clinical Reasoning: An Unusual Etiology of Lumbosacral Plexopathy in a Patient With HIV.

We present a compelling case of uncontrolled diabetes, who initially presented as diabetic lumbosacral radiculoplexus neuropathy (DLRPN), with radicular pain in the right lower limb (LL) followed by asymmetric weakness of both LLs (right greater than left) with wasting in the medial compartment of the right thigh and significant sensory loss in the bilateral sural and right saphenous nerve distribution. Electrophysiology was suggestive of right lumbosacral radiculoplexus neuropathy. Incidentally, the patient tested positive for HIV-1 at our tertiary care center. CSF analysis revealed markedly elevated protein levels (>400 mg/dL) with lymphocytosis, a red flag for DLRPN. This observation led to further workup. Nerve biopsy showed large collections of perivascular endoneurial and epineurial lymphoid inflammatory cells, which favored an alternative diagnosis. This case highlights the intricate interplay between HIV infection, diabetes, and neurologic manifestations, challenging the initial clinical suspicion of DLRPN. This study emphasizes the importance of considering atypical presentations of neuropathy, especially in the context of coexisting medical conditions, and emphasizes the significance of comprehensive diagnostic workup, including CSF studies and nerve biopsy, for an accurate diagnosis.

The influence of severity of hemophilia on bone mineral density and fracture risk

BackgroundEvidence states that persons with hemophilia are frequently affected by low bone mineral density (BMD). Data assessing the relationship between severity of hemophilia and occurrence of osteoporosis are lacking. ObjectivesThis prospective cohort study aimed to assess the impact of hemophilia severity on BMD and to investigate trabecular bone score (TBS) and fracture risk (FRAX). MethodsThis prospective cohort study evaluated the BMD, TBS, and FRAX in 255 persons with hemophilia using dual x-ray absorptiometry. The International Society for Clinical Densitometry guidelines were used for classification: osteoporosis (T-score <−2.5), osteopenia (T-score <−1.0), normal (T-score >−1.0). Patients younger than 50 years of age with a Z-score of <−2.0 were considered below the expected range for age. ResultsOf 255 persons with hemophilia (mild: n = 52, moderate: n = 53, severe: n = 150) aged 43 ± 15 years (mean ± SD), 63.1% showed reduced BMD. Even 11.9% of persons with hemophilia aged <50 years were classified as below the expected range for age. Neck BMD decreased linearly with severity (mild: 0.907 ± 0.229, moderate: 0.867 ± 0.131, severe: 0.799 ± 0.143; P = .01). TBS was classified as “normal” in n = 178 (81.3%) with a mean value of 1.403 ± 0.136, and there were no differences between severity levels (P = .54). The FRAX was 4.4% ± 3.0%. After adjustment of TBS, it was 2.8% ± 3.7%. ConclusionThe present study shows that BMD is decreased in 63.1% of persons with hemophilia also depending on the severity of hemophilia. However, the largely normal TBS implies that the microarchitecture of the bone does not seem to be affected. It is recommended to include osteoporosis screening, including TBS analysis, in the comprehensive diagnostic work-up of persons with hemophilia, especially as they age.

ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics.

Anorectal malformations (ARMs) are rare congenital anomalies that involve the anus, rectum, and oftentimes the genitourinary tract. The management of ARM patients is complex, and many controversies exist. To address this issue, the European Reference Network eUROGEN for rare and complex urogenital conditions aimed to develop comprehensive guidelines for the management of ARM. The Dutch Quality Standard for ARM served as the basis for the development of guidelines applicable on a European level. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from 7 European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected, and recommendations were formed considering current evidence and/or expert consensus. Prenatal and neonatal diagnostic workup as well as postsurgical follow-up of anorectal, genitourinary tract, and neurologic system were reviewed. Seven new studies were identified. The panel adapted 13 recommendations, adopted 7, and developed 8 de novo. The availability of high-quality evidence was limited, and most recommendations were based on retrospective studies, case series, or expert opinion. Patients with ARM and their families require highly specialized and comprehensive care from the prenatal period to adulthood. This guideline provides recommendations for a comprehensive diagnostic workup of children with ARM throughout their life that is applicable on a European level.

Magnetic resonance neurography in the diagnosis of neurological subtypes of thoracic outlet syndrome.

Neurological thoracic outlet syndrome (TOS) can be challenging to diagnose, particularly given its described subtypes of neurogenic TOS (NTOS) and disputed TOS (DTOS) that exhibit variable clinical presentations and etiologies. The diagnostic workup of TOS often includes magnetic resonance neurography (MRN) of the brachial plexus. Specific MRN imaging modifications for TOS evaluation are required to maximize spatial and contrast resolution to increase the conspicuity of nerve segments and their relationships to surrounding osseous structures. Dynamic assessment with arm positioning is used to evaluate outlet narrowing and compression of the plexus. Individual nerve segments are interrogated for their longitudinal and cross-sectional morphologies and signal characteristics. In patients with NTOS, MRN may reveal focal impingement of the C8/T1 nerve roots and/or lower trunk with accompanying abnormal T2-weighted signal hyperintensity. Predisposing anatomical entities include cervical ribs, rib synostoses, hypertrophic callous following clavicular fracture, remnant first thoracic rib from prior incomplete resection, and variable perineural scarring. In comparison, DTOS patients frequently demonstrate signal hyperintensity and enlargement of the mid plexus (trunk and division level), with narrowing of the costoclavicular interval. Following comprehensive diagnostic workup that frequently includes electrodiagnostic testing, patients are directed to different management pathways. Nonsurgical management is considered for all cases of DTOS; all patients with NTOS or DTOS who fail conservative treatment warrant referral for a surgical opinion. If surgery is pursued, MRN can be helpful in preoperative planning.

Nosocomial pneumonia

Nosocomial pneumonia is defined as pneumonia occurring ≥ 48 h after hospital admission in apatient without severe immunosuppression. It can occur in spontaneously breathing patients or with noninvasive ventilation (NIV) and mechanically ventilated patients. In patients with suspected ventilator-associated pneumonia (VAP) (semi)quantitative cultures of tracheobronchial aspirates or bronchoalveolar lavage fluid should be perfomed. The initial empirical antimicrobial treatment is determined by the risk for multidrug-resistant pathogens (MDRP). The advantage of combination treatment increases with the prevalence of MDRPs. The antibiotic treatment should be adapted when the microbiological results are available. After 72 h astandardized re-evaluation including the response to treatment and also checking of the suspected diagnosis of pneumonia in astructured form is mandatory. Treatment failure can occur as aprimary or secondary failure and in the case of primary progression necessitates another comprehensive diagnostic work-up before any further antibiotic treatment.

An Uncommon Culprit: Pancreatic Neuroendocrine Tumor in a Patient with Uncontrolled Diabetes

Pancreatic Neuro Endocrine Tumors (NETs) are rare neoplasms that originate from the endocrine tissues of the pancreas, accounting for only 1-2% of pancreatic tumors. Despite their low incidence, these tumors present with a wide range of symptoms and have the ability to secrete hormones, posing significant challenges for their diagnosis and treatment. There are two distinct types of pancreatic NETs: functioning and nonfunctioning. Functioning tumors are characterized by hormone-related clinical syndromes, while nonfunctioning tumors are often found incidentally. The pathogenesis of pancreatic NETs involves both sporadic and hereditary factors, including syndromes such as MEN1, VHL, and NF1. Typically, these tumors are diagnosed in individuals between the ages of 40 and 60, and their effective management requires a multidisciplinary approach. Diagnostic imaging techniques, such as CT and EUS, play a crucial role in accurate diagnosis, while PET scans aid in staging and treatment planning. Histological analysis is essential for determining the tumor grade and predicting prognosis. Treatment strategies are tailored to the tumor's characteristics and the patient's overall health. These may include the use of somatostatin analogs, such as Lanreotide and Octreotide, to control hormone secretion and inhibit tumor growth, as well as systemic therapies like everolimus, sunitinib, and PRRT for metastatic disease. This case report describes the clinical course of a 66-year-old male with a well-differentiated pancreatic NET who initially presented with persistent hyperglycemia. Further investigations revealed a sizable pancreatic mass and liver metastases. Diagnostic evaluation confirmed a grade 1 Neuro Endocrine Tumor, and the patient was started on treatment with Lanreotide. However, his management was complicated by the development of hepatic encephalopathy, which necessitated treatment with lactulose and rifaximin. This case highlights the importance of considering pancreatic NETs in cases of atypical diabetes presentations and emphasizes the need for a multidisciplinary team to provide optimal care. Given the complex nature of pancreatic NETs, a comprehensive diagnostic workup and personalized treatment approach are essential for improving patient outcomes.

Integrating the 5-SENSE Score for Patient Selection in Vagus Nerve Stimulation for Drug-Resistant Epilepsy.

Addressing the challenge of drug-resistant epilepsy, our study offers a novel perspective by retrospectively applying the 5-SENSE score, initially created for stereoelectroencephalography (SEEG) planning, to evaluate its predictive value in patients undergoing vagus nerve stimulation (VNS) therapy. We conducted a comprehensive preoperative diagnostic work-up, including computed tomography (CT), magnetic resonance imaging (MRI), positron emission tomography-CT (PET-CT), video-electroencephalogram (video-EEG), and clinical semiology. We then stratified 76 patients into three groups - low, moderate, and high focality - based on the focality of the seizure-onset zone. Such stratification was made to check the scoring ability in predictingVNStherapy seizure reduction. Our findings demonstrate an association between the extent of focality at the seizure-onset zone and the effectiveness of VNS, which may help to define the role of the 5-SENSE score in patient selection for VNS. This high dispersion of responses in the group with high focality reinforces the idea that outcome estimation is difficult and argues for an individualized strategy in the treatment of drug-resistant epilepsy. A study at the level of the 5-SENSE score indicates the importance of detailed preoperative assessments that may better optimize selection for VNS therapy and further improve clinical outcomes.

Multilocular subcutaneous bacillary angiomatosis as a primary manifestation of AIDS.

A 34-year-old male patient presented with a clinical picture of multilocular subcutaneous skin nodules in addition to marked lymphadenopathy and general physical deterioration. A comprehensive diagnostic workup including serology, skin biopsy and imaging studies led to the initial diagnosis of human immunodeficiency virus (HIV) infection in AIDS stage with rare multilocular subcutaneous bacillary angiomatosis (BA) caused by Bartonella henselae. BA describes a process of neovascularisation of the skin or of internal organs (particularly the liver and spleen) and was first described in HIV-positive patients by Stoler etal. in 1983. Both cutaneous and systemic symptoms are variable. There is no standardized treatment. The patient was started on antibiotic therapy with doxycycline, which was subsequently augmented with rifampicin. As the patient's general condition deteriorated and lymphocytopenia aggravated, he was transferred to an internal medicine ward for further treatment and subsequently commenced on antiretroviral therapy. This case corroborates numerous aspects of the cases described in the literature yet differs from them in that subcutaneous lesions are uncommon, particularly when infected with Bartonella henselae, illustrating the clinical spectrum of BA. Furthermore, it emphasises the significance of prompt and thorough diagnosis encompassing HIV serology in instances of skin lesions, accompanied by systemic signs and evidence of immunosuppression.

Diagnosis of an atypical fever in a 55-year-old man.

The paper describes a diagnostically challenging case of recurrent fever with an atypical course in a 55-year-old man. The authors highlight the significant difficulty in reaching a correct diagnosis, as well as the doubts and problems associated with the diagnostics. They suggest considering brucellosis as a diagnosis based on the patient's history and the course of the disease characterized by fluctuating, intermittent, and nocturnal fever. The aim of the study was to present an atypical and diagnostically challenging case of recurrent febrile episodes in a 55-year-old man. A comprehensive diagnostic workup, including laboratory tests, imaging, and specialist consultations, was conducted. The patient's medical history, physical examination, and various diagnostic tests were analyzed. In a patient with recurrent episodes of fever, an infection with Brucella spp. was detected, which was effectively treated with long-term antibiotic therapy. Imaging and laboratory diagnostics, along with specialist consultations, helped rule out other potential causes of the symptoms. The patient achieved lasting improvement following the treatment. There is a high probability that the patient was infected with Brucella bacteria. Diagnostic challenges and the rarity of the disease, considered non-existent in Poland, hinder prompt confirmation or exclusion of infection. The authors aimed to highlight the possibility of a higher frequency of brucellosis in Poland. They suggest that Brucella bacteria may still be present, causing chronic, unrecognized, recurrent fevers. Based on the case analysis, the authors indicate that the frequent occurrence of this disease in Poland might be higher than reported by statistics.

Management of Metastatic Spinal Disease - A Practical Approach.

Narrative review. This review presents a comprehensive approach to the management of spinal metastases. N/A. The wide spectrum of clinical presentation in spinal metastases necessitates a personalized approach to treatment planning. This includes a comprehensive diagnostic workup, oncological management, palliation of symptoms, and surgical intervention if appropriate. A systematic and multidisciplinary approach allows optimal shared decision making to reach an evidence-informed and value-congruent treatment plan for the patient. We highlight how advances in stereotactic body radiotherapy (SBRT) and separation surgery may be incorporated into clinical management from a spine surgeon's perspective. This review summarizes the approach and management of spinal metastases, its outcomes and complications.

Idiopathic male infertility – what are we missing?

ABSTRACT Couple’s infertility is a rising issue worldwide affecting approximately 15% of couples. In 50% of the couples, a male factor infertility can be identified. Moreover, 30% of the men exhibit reduced sperm quality without any identifiable reason, thereby delineating the condition of idiopathic male infertility (IMI). Despite numerous improvements in the diagnosis and treatment of male infertility over the last decades, idiopathic forms are still the most challenging clinical dilemmas. The aim of this article is to describe the comprehensive diagnostic work-up that each idiopathic infertile man should follow. Moreover, potential new pathophysiological mechanisms and suggested treatment options are discussed. A detailed medical history and an extensive physical examination are mandatory to investigate potential treatable causes of MFI. Similarly, standard semen analysis has been proven to be limited in capturing the fecundability of the spermatozoa itself, therefore more advanced examinations, such as sperm DNA fragmentation (SDF) and oxidative stress measurement, are becoming important in clinical practice for IMI. In terms of diagnostic tools, imaging and genetic investigations are useful to classify idiopathic infertile men, however, epigenetic changes have demonstrated to have a role in sperm production and a prognostic value in fertility outcomes. Antioxidant treatment for IMI has been found to be a valid option to counteract ROS action, while gonadotropins are used to improve sperm quality and SDF. Artificial intelligence is promising to better manage idiopathic infertile men in terms of diagnosis and treatment options.

The importance of the 'uterine factor' in recurrent pregnancy loss: a retrospective cohort study on women screened through 3D transvaginal ultrasound.

What is the prevalence of congenital and acquired anomalies of the uterus in women with recurrent pregnancy loss (RPL) of unknown etiology examined using 3D transvaginal ultrasound (US)? Depending on the adopted diagnostic criteria, the prevalence of partial septate uterus varies between 7% and 14% and a T-shaped uterus is 3% or 4%, while adenomyosis is 23%, at least one of type 0, type 1 or type 2 myoma is 4%, and at least one endometrial polyp is 4%. ESHRE and the Royal College of Obstetricians and Gynaecologists guidelines on RPL recommend the adoption of the 3D transvaginal US to evaluate the 'uterine factor'. Nevertheless, there are no published studies reporting the prevalence of both congenital and acquired uterine anomalies as assessed by 3D transvaginal US and diagnosed according to the criteria proposed by the most authoritative panels of experts in a cohort of women with RPL. This was a retrospective cohort study including 442 women with at least two previous first-trimester spontaneous pregnancy losses (i.e. non-viable intrauterine pregnancies), who referred to the obstetrics and gynecology unit of two university hospitals between July 2020 and July 2023. Records of eligible women were reviewed. Women could be included in the study if: they were between 25 and 42 years old; they had no relevant comorbidities; they were not affected by infertility, and they had never undergone ART; they and their partner tested negative to a comprehensive RPL diagnostic work-up; and they had never undergone metroplasty, myomectomy, minimally invasive treatments for uterine fibroids or adenomyomectomy. Expert sonographers independently re-analyzed the stored 2- and 3D transvaginal US images of all included patients. Congenital uterine anomalies (CUAs) were reported according to the American Society for Reproductive Medicine (ASRM) 2021, the ESHRE/European Society for Gynaecological Endoscopy (ESGE) and the Congenital Uterine Malformation by Experts (CUME) criteria. Acquired uterine anomalies were reported according to the International Federation of Gynecology and Obstetrics (FIGO) and the Morphological Uterus Sonographic Assessment (MUSA) criteria. The partial septate uterus was diagnosed in 60 (14%; 95% CI: 11-17%), 29 (7%; 95% CI: 5-9%), and 47 (11%; 95% CI: 8-14%) subjects, according to the ESHRE/ESGE, the ASRM 2021, and the CUME criteria, respectively. The T-shaped uterus was diagnosed in 19 women (4%; 95% CI: 3-7%) according to the ESHRE/ESGE criteria and in 13 women (3%; 95% CI: 2-5%) according to the CUME criteria. The borderline T-shaped uterus (diagnosed when two out of three CUME criteria for T-shaped uterus were met) was observed in 16 women (4%; 95% CI: 2-6%). At least one of FIGO type 0, type 1, or type 2 myoma was detected in 4% of included subjects (95% CI: 3-6%). Adenomyosis was detected in 100 women (23%; 95% CI: 19-27%) and was significantly more prevalent in women with primary RPL and in those with three or more pregnancy losses. At least one endometrial polyp was detected in 4% of enrolled women (95% CI: 3-7%). The absence of a control group prevented us from investigating the presence of an association between both congenital and acquired uterine anomalies and RPL. Second, the presence as well as the absence of both congenital and acquired uterine anomalies detected by 3D US was not confirmed by hysteroscopy. Finally, the results of the present study inevitably suffer from the intrinsic limitations of the adopted classification systems. The prevalence of CUAs in women with RPL varies depending on the classification system used. For reasons of clarity, the US reports should always state the name of the uterine anomaly as well as the adopted classification and diagnostic criteria. Adenomyosis seems to be associated with more severe forms of RPL. The prevalence rates estimated by our study as well as the replicability of the adopted diagnostic criteria provide a basis for the design and sample size calculation of prospective studies. No specific funding was used. The authors have no conflicts of interest to declare. N/A.

Prostate cancer risk assessment and avoidance of prostate biopsies using fully automatic deep learning in prostate MRI: comparison to PI-RADS and integration with clinical data in nomograms

ObjectivesRisk calculators (RCs) improve patient selection for prostate biopsy with clinical/demographic information, recently with prostate MRI using the prostate imaging reporting and data system (PI-RADS). Fully-automated deep learning (DL) analyzes MRI data independently, and has been shown to be on par with clinical radiologists, but has yet to be incorporated into RCs. The goal of this study is to re-assess the diagnostic quality of RCs, the impact of replacing PI-RADS with DL predictions, and potential performance gains by adding DL besides PI-RADS.Material and methodsOne thousand six hundred twenty-seven consecutive examinations from 2014 to 2021 were included in this retrospective single-center study, including 517 exams withheld for RC testing. Board-certified radiologists assessed PI-RADS during clinical routine, then systematic and MRI/Ultrasound-fusion biopsies provided histopathological ground truth for significant prostate cancer (sPC). nnUNet-based DL ensembles were trained on biparametric MRI predicting the presence of sPC lesions (UNet-probability) and a PI-RADS-analogous five-point scale (UNet-Likert). Previously published RCs were validated as is; with PI-RADS substituted by UNet-Likert (UNet-Likert-substituted RC); and with both UNet-probability and PI-RADS (UNet-probability-extended RC). Together with a newly fitted RC using clinical data, PI-RADS and UNet-probability, existing RCs were compared by receiver-operating characteristics, calibration, and decision-curve analysis.ResultsDiagnostic performance remained stable for UNet-Likert-substituted RCs. DL contained complementary diagnostic information to PI-RADS. The newly-fitted RC spared 49% [252/517] of biopsies while maintaining the negative predictive value (94%), compared to PI-RADS ≥ 4 cut-off which spared 37% [190/517] (p < 0.001).ConclusionsIncorporating DL as an independent diagnostic marker for RCs can improve patient stratification before biopsy, as there is complementary information in DL features and clinical PI-RADS assessment.Clinical relevance statementFor patients with positive prostate screening results, a comprehensive diagnostic workup, including prostate MRI, DL analysis, and individual classification using nomograms can identify patients with minimal prostate cancer risk, as they benefit less from the more invasive biopsy procedure.Key PointsThe current MRI-based nomograms result in many negative prostate biopsies. The addition of DL to nomograms with clinical data and PI-RADS improves patient stratification before biopsy.Fully automatic DL can be substituted for PI-RADS without sacrificing the quality of nomogram predictions.Prostate nomograms show cancer detection ability comparable to previous validation studies while being suitable for the addition of DL analysis.

Life-threatening airway obstruction by Riedel's thyroiditis: a rare presentation and diagnostic dilemma.

Riedel's thyroiditis is the rarest form of thyroiditis, occasionally resulting in rapid thyroid enlargement and potential tracheal obstruction. Here, we detail the case of an 81-year-old woman with a medical history including Hodgkin lymphoma, Hashimoto's thyroiditis, and multinodular goiter. She presented to the emergency room with stridor, cervical swelling, and breathing difficulties for over 2 days. CT scans revealed substantial thyroid enlargement causing significant glottal and tracheal compression, to a minimum tracheal diameter of 7 mm. Due to the severity of the compressive symptoms, orotracheal intubation and mechanical ventilation were deemed necessary. Surprisingly, despite the initial suspicion of malignancy given the rapid growth in the elderly, subsequent cytological and histological evaluations indicated a benign form of invasive fibrous thyroiditis - Riedel's thyroiditis. Although surgical intervention was advised, the patient declined and opted for endobronchial treatment with a prosthetic stent and subsequent treatment with systemic glucocorticoids. Following successful treatment, she was discharged within a week and resumed normal activities without respiratory distress. This case is noteworthy for its rapid benign mass growth, rare emergent presentation, and the patient's advanced age. The rapid enlargement of the thyroid gland in elderly patients poses a diagnostic challenge, stemming from the higher occurrence of aggressive thyroid carcinomas. Despite the clinical presentation, a comprehensive diagnostic workup, including fine-needle aspiration and core-needle biopsy, is crucial for accurately distinguishing between benign and malignant causes of thyroid nodule enlargement. This case report illustrates diverse treatment options for Riedel's thyroiditis, and the importance of individualized treatment plans based on the degree of airway obstruction, patient preferences, and response to initial interventions. Clinicians should contemplate the inclusion of glucocorticoids in the therapeutic regimen for Riedel's thyroiditis, particularly in cases where surgical intervention is not feasible or declined by the patient.

Bilateral lower limb weakness due to transverse myelitis as a first presentation of ankylosing spondylitis

Abstract: The occurrence of transverse myelitis (TM) in ankylosing spondylitis (AS) patients is a rarely reported event with only a few reports of similar cases in existing literature. When faced with a patient with TM, attention should be focused on determining the cause. AS should be kept in mind as a possible etiology. We report the case of a 58-year-old female patient who presented at Al-Ahli Hospital in Palestine, with a 3-day history of lower limb weakness, preceded by a 1-month history of lower back pain with radiation to lower limbs. Based on clinical findings and a comprehensive diagnostic work-up, the patient was diagnosed with TM along with AS. Steroid therapy was started, with pulse therapy having minimal effect. Due to the poor response to steroid therapy, plasmapheresis was done with a good response. After careful consideration, our patient was discharged on low-dose oral glucocorticoids for her TM, and methotrexate for her AS, with close follow-up by a neurologist and a rheumatologist.

Primary left atrial rhabdomyosarcoma in a 42-year-old patient: an unusual cardiac tumor presentation

Left atrial rhabdomyosarcoma is an extremely rare and often overlooked form of primary cardiac malignancy that primarily affects the atria of the heart. The aggressive nature of atrial rhabdomyosarcoma necessitates early recognition, a comprehensive diagnostic workup, and prompt intervention to achieve the best possible outcomes. In this case report, we present the clinical details of a 42-year-old female diagnosed with left atrial rhabdomyosarcoma, who exhibited symptoms of recent pulmonary edema, weight loss, and alternating flushing. Diagnosis, surgical treatment, and the iatrogenic atrial septal defect complication due to interatrial septum invasion were discussed.

Diphteric Myocarditis: A Case Report on Ecg and Cardiac Imaging Findings with the Levels of Cardiac Enzymes in a 17-Year-Old

Background: Diphtheria, caused by Corynebacterium diphtheriae, remains a life-threatening infectious disease in regions with low vaccination uptake. Myocarditis, a severe cardiac complication of diphtheria, is a leading cause of mortality. Despite the success of vaccines in reducing diphtheria cases, sporadic cases continue to occur, leading to significant health complications. Objective: This case report aims to present the clinical course, electrocardiogram (ECG) and cardiac imaging findings, and serial levels of serum troponin in a 17-year-old patient with diphtheritic myocarditis, and to discuss the management and outcomes. Methods: This study was conducted at Lady Reading Hospital, Peshawar, Pakistan. Ethical approval was obtained from the hospital's ethical review board, and informed consent was acquired from the patient and guardians. A comprehensive diagnostic workup was performed, including clinical examination, laboratory tests, ECG, transthoracic echocardiography (TTE), and cardiac magnetic resonance imaging (MRI). The patient’s vital signs, blood pressure, pulse rate, and jugular venous pressure were recorded. Laboratory tests included leukocyte count, erythrocyte sedimentation rate (ESR), and serial serum troponin measurements. ECG findings were documented, and TTE was used to assess left ventricular ejection fraction (LVEF). Cardiac MRI was performed to identify myocardial edema and delayed enhancement. Treatment included intravenous diuretics, ACE inhibitors, SGLT2 inhibitors, benzylpenicillin, and corticosteroids. Data were analyzed using SPSS version 25.0. Results: The patient presented with a blood pressure of 110/70 mmHg and a pulse rate of 88 bpm. Initial laboratory tests showed a normal leukocyte count, ESR of 45 mm/hr, and troponin levels of 25 ng/ml, which decreased to 21.85 ng/ml and then to 8 ng/ml. ECG revealed ST segment depressions in the precordial leads. TTE showed an initial LVEF of 50%, declining to 35% and then to 28% within a week. Post-treatment, LVEF improved to 44% and subsequently to 55% at four weeks. Cardiac MRI indicated myocardial edema in the apical anterior and apical septal walls, with intramyocardial and subepicardial delayed enhancement. Conclusion: Diphtheritic myocarditis can lead to rapid and severe deterioration of cardiac function. Early diagnosis and aggressive treatment, including the use of advanced imaging techniques and comprehensive medical therapy, can result in significant improvement in cardiac function and patient outcomes. Public health initiatives to improve vaccination coverage are essential to prevent such life-threatening complications.