Classic Symptoms Research Articles

Compensatory upregulation of MT2A alleviates neurogenic intermittent claudication through inhibiting activated p38 MAPK-mediated neuronal apoptosis.

Neurogenic intermittent claudication (NIC), a classic symptom of lumbar spinal stenosis (LSS), is associated with neuronal apoptosis. To explore the novel therapeutic target of NIC treatment, we constructed the rat model of NIC by cauda equina compression (CEC) method and collected dorsal root ganglion (DRG) tissues, a region responsible for sensory and motor function, for mRNA sequencing. Bioinformatic analysis of mRNA sequencing indicated that upregulated metallothionein 2A (MT2A), an apoptosis-regulating gene belonging to the metallothionein family, might participate in NIC progression. Activated p38 MAPK mediated motor dysfunction following LSS and it was also found in DRG tissues of rats with NIC. Therefore, we supposed that MT2A might affect NIC progression by regulating p38 MAPK pathway. Then the rat model of NIC was used to explore the exact role of MT2A. Rats at day 7 post-CEC exhibited poorer motor function and had two-fold MT2A expression in DRG tissues compared with rats with sham operation. Co-localization analysis showed that MT2A was highly expressed in neurons, but not in microglia or astrocytes. Subsequently, neurons isolated from DRG tissues of rats were exposed to hypoxia condition (3% O2, 92% N2, 5% CO2) to induce cell damage. Gain of MT2A function in neurons was performed by lentivirus-mediated overexpression. MT2A overexpression inhibited apoptosis by inactivating p38 MAPK in hypoxia-exposed neurons. Our findings indicated that high MT2A expression was related to NIC progression, and MT2A overexpression protected against NIC through inhibiting activated p38 MAPK-mediated neuronal apoptosis in DRG tissues.

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript.

Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized primarily by congenital microcephaly and intellectual disability but without extra-central nervous system malformations. This investigation aimed to elucidate the genetic underpinnings of microcephaly in a patient from a Chinese consanguineous family. A comprehensive clinical assessment, including brain magnetic resonance imaging (MRI), electroencephalogram (EEG), and genetic analyses, was conducted to evaluate the patient's condition. Whole-exome sequencing (WES) was employed to identify the causative gene, followed by Sanger sequencing, to confirm the mutation and its segregation within the family. Reverse transcript polymerase chain reaction (RT-PCR) was utilized to detect changes in splicing. Western blot was employed to reveal the difference of protein expression level between the wild-type and mutant WDR62 in vitro. The patient exhibited classic MCPH symptoms, including microcephaly, recurrent epilepsy, delayed psychomotor development, and intellectual disability. Additionally, asymmetrical limb length was noted as a prominent feature. MRI findings indicated reduced brain volume with cortical malformations, while EEG demonstrated heightened sharp wave activity. A molecular analysis uncovered a novel homozygous variant c.4154-6 C > G in the WDR62 intron, and a functional analysis confirmed the pathogenicity of this mutation, resulting in the formation of an abnormal transcript with premature termination codons. This study enhances our understanding of the genetic heterogeneity associated with MCPH and highlights the pivotal role of genetic testing in the diagnosing and managing of rare neurodevelopmental disorders. Furthermore, it highlights the potential of emerging genetic therapies in treating conditions such as MCPH2.

MANAGEMENT OF BELL’S PALSY - A CASE REPORT

Bell’s palsy is a disease affecting one side of the facial muscles abruptly due to compression or inflammation of the facial nerve. This case study explores the clinical presentation and Ayurvedic management of a 52-year-old female patient presenting with symptoms consistent with Bell's palsy, termed as Sopha/Kapha Anubanda Arddita in Ayurveda. The patient exhibited sudden onset facial deviation, speech difficulty, and other associated symptoms. The diagnosis was primarily clinical, supported by classical symptoms of Ardita and Bell's palsy. Treatment involved a combination of Kaphahara/Sophahara medications followed by Vatahara medicines, alongside specific therapeutic procedures tailored to address the underlying doshic imbalances. Critical interventions included the administration of Amrutotharam Kashayam, topical applications of Lepana, and Nasya with Ksheerabala Taila 101 Avartti, among others. The patient showed significant improvement in symptoms and motor functions over a 14-day inpatient treatment period, demonstrating the efficacy of Ayurvedic interventions in managing acute onset LMN Facial palsy. This case underscores the importance of individualised treatment approaches and the potential of Ayurveda in addressing complex neurological conditions.

Alkindi Sprinkle for Pediatric Patients With Primary Adrenocortical Insufficiency: A Narrative Review.

Adrenocortical insufficiency, also known as adrenal insufficiency (AI), is an endocrine disorder characterized by inadequate production of adrenal hormones, including glucocorticoids and mineralocorticoids (MCs). The condition can be categorized as primary, secondary, or tertiary AI, depending on the location of the defect. Classical symptoms of AI include weakness, fatigue, abdominal pain, tachycardia, hypotension, electrolyte imbalances, and hyperpigmentation. In children, the most common cause of AI is classical congenital adrenal hyperplasia, which results from a deficiency in the 21-hydroxylase enzyme. The 21-hydroxylase enzyme produces all steroids, such as cortisol and aldosterone. AI management primarily involves hormone replacement therapy, typically with oral hydrocortisone and MC supplementation. However, the administration of hydrocortisone to pediatric patients presents challenges related to the lack of available dose-appropriate formulations. Historically, crushed or split adult tablets were used for the pediatric treatment of AI, although this poses an increased risk of under- or overtreatment. Inadequate dosing in the pediatric population can adversely affect growth, development, and metabolic health. Alkindi Sprinkle is a pediatric-specific hydrocortisone oral granule preparation that manages cortisol levels to help facilitate accurate therapeutic dosing. Alkindi offers several advantages, including accurate dosing, taste masking, and ease of administration. The present investigation describes AI, the management of AI, and the treatment of pediatric AI using Alkindi Sprinkle, including clinical efficacy.

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China

ObjectiveThis study aimed to explore the clinical and genetic features of Chinese patients with mucopolysaccharidosis type VII (MPS VII), thereby improving early detection, disease management, and patient outcomes. MethodsA retrospective review of medical records for five patients presenting with coarse facial features, rib protrusion, chest deformities, and scoliosis was conducted. Exome sequencing was employed to identify causative genetic mutations. ResultsThe study comprised five patients (four males, one female) with disease onset at six months of age (range: 0–1.5 years). Common symptoms included coarse facial features, skeletal abnormalities, delayed motor and language development, and intellectual disability. Approximately 80% of the patients exhibited multiple skeletal dysplasias, enlarged adenoids or tonsils, and snoring; 60% had hernias; 40% reported hearing loss and hepatosplenomegaly. Less frequent manifestations were short stature, valvular heart disease, non-immune hydrops fetalis, and corneal opacity. All patients demonstrated elevated urine glycosaminoglycans levels and absent β-glucuronidase activity in leukocytes. Exome sequencing identified compound heterozygous mutations in the GUSB gene in all four tested patients, uncovering seven mutations in total, three of which were novel (c.189G > A, c.869C > T, and c.1745 T > C). Furthermore, prenatal diagnosis through chorionic villus sampling in subsequent pregnancies of one patient's mother revealed both fetuses had normal β-glucuronidase activity and no disease-causing mutations in the GUSB gene. ConclusionThe study's patients all presented with classic symptoms of MPS VII due to β-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for disease prevention.

The CT Scan Lung Severity Score and Vaccination Status in COVID-19 patients in India: Perspective of an Independent Radiology Practice

Background Patients with COVID-19 often undergo a high-resolution CT scan to determine the extent of lung involvement. The aim of this study was to determine lung involvement in confirmed/suspected COVID-19 patients (encountered at an independent radiology practice) and its correlation to vaccination status amidst the second COVID-19 wave in India. Methods We retrospectively queried our data from April 2021 to identify adult patients (>17 years) who had confirmed (positive RT-PCR or antigen test) or suspected COVID-19 (classic symptoms but negative RT-PCR) and received a high-resolution CT scan to determine the extent of lung involvement using the CT severity (CT-SS) score. The patients were classified into three groups based on their vaccination status to determine their correlation with the CT-SS score: fully vaccinated, partially vaccinated, and unvaccinated. Basic descriptive statistics, univariate tests, and multivariate linear regression analyses were performed. Results We identified 229 patients (median age, 45 years; 60% male), of whom 205 (89%) had confirmed COVID-19 (positive RT-PCR) and 24 had suspected disease (negative RT-PCT but classic symptoms). Of 229 patients, 29 (13%) had complete vaccination, 38 (17%) had partial vaccination, and 162 (70%) had no vaccination. The CT score of the completely vaccinated patients was significantly lower than that of the partially or unvaccinated patients (median 0 v. 3.5 v. 10, respectively p<.01). Conclusion Here, we present real-world findings from an independent radiology practice (a unique and common practice model) in India amid the second COVID-19 wave, showing significantly lower CT severity scores in fully or partially vaccinated patients compared to unvaccinated patients. Complete vaccination of patients may be critical in preventing severe lung disease.

Colitis isquémica y colitis microscópica

Ischemic colitis (IC) is a condition that arises when blood flow in the colon is reduced such that it is insufficient for maintaining adequate cellular metabolic function. Microscopic colitis (MC) is a chronic disease characterized by colon mucosa that has a normal appearance on an endoscopy, watery diarrhea, and distinctive histologic features. The pathophysiology of IC is not clearly established. The etiopathogenesis of MC is considered multifactorial and not clearly known; genetic and luminal factors as well as a component of abnormal immune regulation have been described. The symptoms and severity of IC are highly variable, although the classic clinical symptoms consists of abdominal pain, fecal urgency, and, subsequently, rectorrhagia. The most characteristic manifestation of MC is watery diarrhea. The diagnostic test of choice for IC is computed tomography, while for MC it is a colonoscopy with biopsy collection. Most cases of IC require conservative management with a liquid diet, fluid replacement therapy, and empiric antibiotic therapy. In regard to the treatment of MC, drugs with a temporal relationship should be suspended and oral budesonide is the treatment of choice.

Campylobacter Infections With and Without Bacteremia: A Comparative Retrospective Population-Based Study.

Bacteremia with species in the genus Campylobacter is rare, and knowledge of the disease course in comparison with Campylobacter enteritis is limited. This is a retrospective population-based study. Episodes of Campylobacter bacteremia and Campylobacter enteritis with a concurrent negative blood culture result that occurred between 2015 and 2022 in southern Sweden were identified through the laboratory database. Medical records were reviewed, and clinical features between patients with bacteremic Campylobacter infections were compared with patients with Campylobacter spp found in feces. The study included 29 bacteremic infections with Campylobacter and 119 cases of Campylobacter spp found in feces. Patients with Campylobacter bacteremia were significantly older than those with enteritis (72 years [IQR, 58-62] vs 58 years [IQR, 33-67], P < .0001). Eleven patients with bacteremia developed sepsis within 48 hours from blood culturing, and no patient died within 30 days from hospital admission. Campylobacter bacteremia is rare and occurs mainly in the elderly with comorbidities. In comparison with Campylobacter infections limited to the gastrointestinal tract, patients with bacteremic Campylobacter infections are older and seem more prone to develop sepsis. Classical gastroenteritis symptoms in bacteremic cases with Campylobacter may be absent.

Ayurvedic Management of Primary Infertility Due to Chocolate Cyst: A Case Report

Background: Endometriosis presents in three different entities, which are frequently found together: peritoneal lesions, deep endometriosis and ovarian endometriotic cysts (endometriomas) Ovarian endometrioma is a benign estrogen dependent cystic mass arising from ectopic endometrial tissue within the ovary. It contains thick, brown, tar like fluid, which may be referred to as a chocolate cyst. The presence of endometriomas indicates more severe stage of endometriosis. Endometriomas can lead to chronic pelvic pain and infertility, and often requires surgery for treatment. Endometriosis has been found in nearly 50% of women experiencing issues with infertility, and nearly 70% of women with pelvic pain. Classic symptoms includes dysmenorrhoea, dyspareunia, menorrhagia and infertility. Management of the ovarian cyst through surgery is available to meet urgent need of the patient, but to establish a satisfactory conservative medical treatment is the need of the hour. According to Ayurveda, depending upon most common symptoms it can be compared as a syndrome complex of Granthi, Vidradhi, Udavartini Yonivyapada, Paripluta yonivyapada and Vataja Yonivyapada. It is a Tridoshaja vyadhi with vitiation of Vata And Artava. Chocolate cysts can also be managed on the line of treatment of Granthi, (nodular/glandular swellings) Vidradhi (abscess), Raktapachana and Raktaprasadana. Aim: To manage Female infertility with chocholate cyst with shodhana and shamana therapy. Materials and methods: A patient aged 25years came to outdoor patient department of Prasutitantra Evum Streeroga with the complaint of lower abdominal pain and infertility since2 years. Her Ultrasonography report reveals bilateral chocolate cyst with no dominant follicle. She has tendency of formation of recurrent chocolate cyst since 3 years. She was administered Virechana after completion of menses on 1st cycle, Dashmoola Shodhan Basti along with Uttara Basti with uttarabasti with kasisadi taila and sahachara taila in 2nd cycle, Yastimadhu Ksheera Basti for 3rd cycle along with the Uttara Basti with kasisadi taila and sahachara taila, on the fourth month Uttarabasti with 5 ml of Dhanvantra taila was done, Shigru Patra Avagaha Swedana and Jeevaniya Choorna 3 gm orally with warm milk after Basti treatment. Results: Patient has marked reduction in the size of the chocolate cyst and she conceived with the treatment protocol of 4 months Conclusion: Above mentioned treatment plan has effective result due to Shothahara, Vatanulomana, Raktaprasadana properties which may have effectively curtailed the progress of ovarian cyst and helped in treating infertility.

Prevalence of endocrine disorders in 304 premenopausal women referred with oligomenorrhoea.

We aimed to evaluate 304 premenopausal women admitted to our clinic for oligomenorrhoea, and to screen for Cushing's syndrome (CS) in this population. The study included 304 premenopausal women referred to our clinic for oligomenorrhoea. Anthropometric measurements and Ferriman-Gallwey score were evaluated, and thyroid hormone, follicle-stimulating hormone (FSH), luteinizing hormone (LH), total testosterone, prolactin, dehydroepiandrosterone sulphate (DHEA-S), and 17-hydroxyprogesterone (17-OHP) levels were measured in all patients. If basal 17-OHP was > 2 ng/mL, we evaluated adrenocorticotropic hormone (ACTH)-stimulated 17-OHP levels. CS was screened by 1 mg-dexamethasone suppression test, and if the cortisol value was > 1.8 μg/dL, we performed additional confirmatory tests, and if necessary, pituitary magnetic resonance imaging (MRI) and inferior petrosal sinus sampling (IPSS) were performed. The most common cause of oligomenorrhoea was polycystic ovary syndrome (PCOS) that was detected in 81.57% of cases, followed by hyperprolactinemia at 7.23% and hypothalamic anovulation at 5.26%. The prevalence of premature ovarian failure (POF) was 1.6%, and non-classical congenital adrenal hyperplasia (NCAH) was 1.97%. CS was detected in 7 (2.30%) patients. All the patients with CS were found to have Cushing's disease (CD). Although 3 patients with CD had classical signs and symptoms, 4 had none. Patients with CD had similar total testosterone values to those in the PCOS and NCAH groups, but they had significantly higher DHEA-S compared to both groups (CD vs. PCOS, p = 0.001 and CD vs. NCAH, p = 0.030). We found higher prevalence of CS in patients with oligomenorrhoea even in the absence of clinical signs. Therefore, we suggest routine screening for CS during the evaluation of patients with oligomenorrhoea and/or PCOS. The likelihood of CS is greater in patients with high androgen, especially DHEA-S levels.

Clinical manifestations and prognosis of tuberculous spondylitis in an adolescent with disseminated tuberculosis: a case report

Indonesia is one of the countries with the highest number of tuberculosis (TB) cases globally. Around 10-20% of adolescents with TB infection progress to pulmonary TB, and less than 0.5% develop miliary or central nervous system TB. TB spondylitis occurs in only 5.6% of extrapulmonary TB patients. The clinical manifestations of disseminated and TB spondylitis are heterogeneous and insidious, with several potential risk- and prognostic factors. We report the case of a 16-year-old male admitted with abdominal distension, paraplegia, and urinary retention. He was diagnosed with disseminated TB with TB spondylitis. This case was unique because the patient had no classic symptoms of pulmonary TB. This report focuses on the diagnosis, comprehensive management, and prognosis of TB spondylitis, as well as the risk factors for disseminated TB. The management consisted of antituberculous agents and surgery. The prognosis is influenced by the patient’s age, severity of kyphosis deformity, number of vertebrae involved, lesion site, and patient’s health status, including nutritional status.

A Population-Based Study on the Incidence, Risk Factors, and Outcome of Salmonella Bloodstream Infections in South Sweden 2012-2022.

Invasive infections caused by Salmonella are a significant global health concern. This population-based study aimed to comprehensively analyze invasive Salmonella infections in South Sweden, focusing on incidence, clinical presentation, risk factors, and outcomes. This population-based observational cohort study, conducted from 2012 to 2022, included all patients with Salmonella bloodstream infections (BSI) in the Skåne region, South Sweden. A control group consisted of patients with positive stool cultures/PCR for Salmonella but without BSI. Data were collected following a predefined study protocol from medical records. Standardized statistical analyses assessed patient characteristics, clinical presentation, and outcomes. Between 2012 and 2022, 149 patients with SBSI were identified, with the majority having non-typhoidal Salmonella (NTS) infections (95%). A declining trend in the incidence of SBSI was observed, with the highest incidence in 2012 (1.5 per 100,000 person-years) and the lowest in 2020 (0.3 per 100,000 person-years). Patients with BSI were more likely to be older, have comorbidities, be immunosuppressed, and use proton pump inhibitors (PPIs). Additionally, patients with BSI presented with fewer gastrointestinal symptoms, had a higher respiratory rate, lower saturation, and higher SOFA scores, suggesting a more septic presentation. Patients with SBSI had significantly longer hospital stays and higher 30-day, 90-day, 180-day, and 365-day mortality rates compared to the control group. Invasive Salmonella infections are rare in South Sweden. In a cohort of enteric and invasive Salmonella infection, the absence of classic gastroenteritis symptoms increases the risk of Salmonella bloodstream infection. This study highlights the importance of distinguishing between clinical presentations to guide appropriate treatment when Salmonella infection is suspected. The declining trend in incidence, particularly associated with international travel, necessitates further investigation to understand contributing factors.

Association Between Temporomandibular Joint Disorders and Metastatic Breast Cancer—A Mapping Review

Aim: The authors of the present study speculate that metastasis of breast cancer cells to the temporomandibular joint (TMJ) region mimics classical signs and symptoms of temporomandibular disorders (TMD). The aim of this mapping review was to investigate the association between metastatic breast cancer (MBC) and TMD. Materials and Methods: The focused question was, “Is there an association between MBC and TMD?” Indexed databases (PubMed/Medline, EMBASE, OVID, Scopus, Google Scholar, and Web of Science) were electronically searched up to and including March 2022. These databases were searched using different combinations of the following keywords: cancer, carcinoma, temporomandibular disorders, temporomandibular joint, disc displacement disorder, nociception, and tumor. Original clinical studies that meet the inclusion criteria were included. The risk of bias (RoB) was assessed using the Joanna Briggs Institute Critical Appraisal Checklist for case reports. The structure of this current evidence-based review was tailored to primarily condense the relevant information. Results: Fifteen case reports were selected after screening the retrieved records from the electronic search. Fifteen out of 16 patients were women aged between 32 and 78 years. All patients were diagnosed with MBC, and most presented with adenocarcinoma. The symptoms identified in patients with TMD included: (a) preauricular pain; (b) preauricular swelling; (c) limited mouth opening; and (d) malocclusion. Fourteen of the included studies had a low RoB, while one had a moderate RoB. Conclusion: Based on the currently available evidence, a direct association between TMD and MBC or vice versa cannot be established. Routine visits to medical and oro-dental healthcare providers can contribute toward early diagnosis and management of TMD and MBC.

A Systematic Review of Clinical Guidelines for the Treatment of Gastroesophageal Reflux Disease

Gastroesophageal reflux disease (GERD) is a common condition among adults and children. The estimated prevalence ranges from 8 to 33%, and the numbers are only expected to increase over time. Heartburn and regurgitation are considered classic symptoms of the disease, but it can also present with a variety of atypical, extra-esophageal manifestations, which reduces patients’ quality of life and leads to Under-Diagnosis. Treatment in adults involves a combination of lifestyle modification with pharmacologic, endoscopic, or surgical interventions. Scientific societies from Europe, America, Asia-Pacific, South America, and Central Asia have proposed guidelines based on current understanding of gastroesophageal reflux disease. The review article presents an analysis of treatment regimens from ten different world guidelines for the diagnosis and treatment of GERD, which revealed in most cases similar algorithms of patient management. Some differences in medication approaches are revealed, which is probably due to the different level of health care in each country. Differences in lifestyle modification were considered in the sphere of identified new scenarios of GERD pathogenesis.

Arteriovenous malformation presenting as complex regional pain syndrome: illustrative case.

Complex regional pain syndrome (CRPS) is typically described as a peripheral nerve disorder in which exaggerated allodynia and hyperalgesia follow a minor injury. Some researchers propose a central mechanism, although current evidence is lacking. A 14-year-old female presented with classic CRPS symptoms of left upper-extremity weakness and hyperalgesia after a bout of sharp pain in her thumb while shoveling snow. A possible seizure prompted magnetic resonance imaging, revealing a right frontal Spetzler-Martin grade II arteriovenous malformation (AVM) adjacent to the primary motor cortex. Brodmann areas 1, 3a, and 3b, which are responsible for localizing and processing burning and painful sensations, were also involved. The patient underwent transarterial Onyx embolization in two sessions and microsurgical resection, after which her CRPS symptoms completely resolved. To our knowledge, this is the first reported case of a cerebral AVM presenting as CRPS, which supports a central mechanism. The authors propose that rapid growth of the AVM led to a vascular steal phenomenon of surrounding parenchyma, which disrupted the patient's normal motor function and nociceptive processing. Further validation in other series is needed.

Kearns–Sayre Syndrome with Bilateral Ptosis and External Ophthalmoplegia: A Rare Case Report

Abstract&#x0D; Introduction : Kearns-Sayre syndrome (KSS) is a rare genetic disorder caused by a deletion of mitochondrial DNA (mtDNA) segment, typically characterized by a triad of symptoms includes external ophthalmoplegia, pigmentary retinopathy and appeared before the age of 20. The prevalence rate is about 1–3 per 100.000 individuals. It was diagnosed based on clinical features and supported by biochemical, radiological, histologic, and molecular genetic tests.&#x0D; Case Illustration : 26-year-old male with bilateral ptosis, chronic progressive external ophthalmoplegia, pigmentary retinopathy was shown from ophthalmology examination and associated with hearing loss. Physical examination showed short stature, wasting, and weakness of limb muscles. MRI examination revealed focal brain atrophy on bilateral parietal regions.&#x0D; Discussion : Mitochondrial DNA defect led to dysfunction of the central nervous system, endocrine system, extraocular muscle, myocardium, skeletal muscle, and other multiple systems. The clinical findings in this patient are appropriate for classical signs and symptoms of KSS. Central nervous involvementis shown by the neuroimaging result. There is no cardiac involvement suggested by normal cardiology examination. Although muscle pathology and molecular genetic analysis can play a great role to diagnose KSS, the classical triad of clinical signs plus one of the other symptoms could establish KSS diagnosis.&#x0D; Conclusion : KSS is a rare genetic disorder and challenging to diagnose. However, if a patient presents with the classic triad of symptoms, clinicians should have a high level of suspicion for the disorder. Additionally, It is important to perform a thorough evaluation to rule out other conditions that can cause similar symptoms.

National study on the risks of COVID-19 infection for paediatric kidney transplant recipients: a retrospective, cross-sectional study

IntroductionDuring the COVID-19 pandemic, evidence emerged that immunosuppressed children were less affected by COVID-19 infections compared with immunosuppressed adults. The aim of our study was to investigate how COVID-19 infections...

Delayed presentation of food protein-induced enterocolitis syndrome (FPIES) to okra in a toddler

BackgroundFood protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobulin E (IgE) -mediated food allergy predominantly observed in infants and characterized by the delayed onset of vomiting following ingestion of a trigger food. An increase in research and clinical consideration of FPIES has led to the discovery of unique deviations from the standard FPIES triggers and presentations.Case presentationA 34-month-old female patient with a history of consuming okra daily presented to medical attention after developing classic FPIES symptoms to okra beginning at 14-months of age.ConclusionsRecently, awareness about the varied nature of FPIES clinical presentation has come to light. This case is the first to describe FPIES to the fruit okra that developed over a 12-month time span after previously tolerating the food. This case serves to emphasize the importance of understanding the range of FPIES symptoms to improve recognition and expedite best practice recommendations.

Practical Overview of 123I-Ioflupane Imaging in Parkinsonian Syndromes.

Parkinsonian syndromes are a heterogeneous group of progressive neurodegenerative disorders involving the nigrostriatal dopaminergic pathway and are characterized by a wide spectrum of motor and nonmotor symptoms. These syndromes are quite common and can profoundly impact the lives of patients and their families. In addition to classic Parkinson disease, parkinsonian syndromes include multiple additional disorders known collectively as Parkinson-plus syndromes or atypical parkinsonism. These are characterized by the classic parkinsonian motor symptoms with additional distinguishing clinical features. Dopamine transporter SPECT has been developed as a diagnostic tool to assess the levels of dopamine transporters in the striatum. This imaging assessment, which uses iodine 123 (123I) ioflupane, can be useful to differentiate parkinsonian syndromes caused by nigrostriatal degeneration from other clinical mimics such as essential tremor or psychogenic tremor. Dopamine transporter imaging plays a crucial role in diagnosing parkinsonian syndromes, particularly in patients who do not clearly fulfill the clinical criteria for diagnosis. Diagnostic clarification can allow early treatment in appropriate patients and avoid misdiagnosis. At present, only the qualitative interpretation of dopamine transporter SPECT is approved by the U.S. Food and Drug Administration, but quantitative interpretation is often used to supplement qualitative interpretation. The authors provide an overview of patient preparation, common imaging findings, and potential pitfalls that radiologists and nuclear medicine physicians should know when performing and interpreting dopamine transporter examinations. Alternatives to 123I-ioflupane imaging for the evaluation of nigrostriatal degeneration are also briefly discussed. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material. See the invited commentary by Intenzo and Colarossi in this issue.

Treatment of Nutcracker Syndrome with Left Renal Vein Transposition and Endovascular Stenting

Nutcracker syndrome is a rare condition that occurs as a result of the entrapment of the left renal vein (LRV) between the aorta and the superior mesenteric artery. It is typically associated with symptoms such as left flank pain, hematuria, proteinuria, and pelvic congestion. The current treatment approach may be conservative in the presence of tolerable symptoms, and surgical or hybrid and stenting procedures in the order of priority in the presence of intolerable symptoms. The aim of this study is to review our experiences to evaluate the results of both methods in this series in which we have a greater tendency toward surgery instead of stenting. The clinical data of consecutive patients with nutcracker syndrome who underwent LRV transposition and LRV stenting between July 2019 and October 2023 were retrospectively reviewed. The patients were divided into 2 groups based on the methods of treatment: surgical and stenting. For procedure selection, LRV transposition was primarily recommended, with stenting offered to those who declined. Primary end points were morbidity and mortality. Secondary end points included late complications, patency, freedom from reintervention, and resolution of symptoms. Standard basic statistics and survival analysis methods were employed. Nineteen patients with nutcracker syndrome (female: 100%) were treated with LRV stentings (n=5) and LRV transposition (n=14). The mean age was 24 (20-27, interquartile range [IQR]) years. The mean follow-up was 23 (9-32, IQR) months. There were no major complications and mortality after both procedures. The most frequent sign and symptom associated with LRV entrapment were left flank pain 100% (n=19), proteinuria 88% (n=15), and hematuria 47% (n=9). The mean peak velocity ratio on Doppler ultrasound was 6.13 (6-6.44, IQR). Aortomesenteric angle, beak angle (beak sign), and mean diameter ratio on computed tomography were 26° (22.6-28.5, IQR), 25° (23.9-28, IQR), and 5.3 (5-6, IQR), respectively. Venous pressure measurements were only used to confirm the diagnosis in 5 patients in the stenting group. The measured renocaval gradient was 4 (3.9-4.4, IQR) mm Hg. After both procedures, the classical symptoms, including left flank pain, proteinuria, and hematuria, resolved in 89.5% (n=17), 57.8% (n=11), and 82.3% (n=15) of the cases, respectively. A total of 4 patients required reintervention, 3 patients after LRV transposition (occlusion, n=2; stenosis, n=1), and 1 patient after stenting (occlusion, n=1). The 1-year and 3-year primary patency for the 19 patients was 87% and 80%, respectively. Three-year primary-assisted patency was 100%. Similarly, the 1-year and 3-year freedom from reintervention rate was 83% and 72%, respectively. Additionally, the 1-year and 3-year primary patency for the surgical group was 91% and 81%, respectively, and the 1-year and 3-year primary patency for the stenting group was 75%. Nutcracker syndrome should be kept in mind in cases where flank pain and hematuria cannot be associated with kidney diseases. Radiographic evidence must be accompanied by serious symptoms to initiate the treatment of nutcracker syndrome with LRV transposition and endovascular stenting procedures. Both procedures, along with their respective advantages and disadvantages, can be preferred as primary treatments for nutcracker syndrome. Our study demonstrates that both procedures can be safely and effectively performed, yielding good outcomes.