Diagnostic Confirmation Research Articles

Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.

Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares a common clinical, genetic and pathologic spectrum with frontotemporal dementia (FTD). It is highly heterogeneous in its presentation and features. Up to 50% of patients with MND develop cognitive-behavioural symptoms during the course of the disease, meeting criteria for FTD in 10%-15% of cases. In the absence of a precise biomarker, neuropathology is still a valuable tool to understand disease nosology, reach a definite diagnostic confirmation and help define specific subgroups of patients with common phenotypic, genetic and biomarker profiles. However, few neuropathological series have been published, and the frequency of frontotemporal lobar degeneration (FTLD) in MND is difficult to estimate. In this work we describe a large clinicopathological series of MND patients, analysing the frequency of concurrent FTLD changes and trying to define specific subgroups of patients based on their clinical, genetic and pathological characteristics. We performed an observational, retrospective, multicentre case study. We included all cases meeting neuropathological criteria for MND from the Neurological Tissue Bank of the FRCB-IDIBAPS-Hospital Clínic Barcelona Biobank between 1994 and 2022, regardless of their last clinical diagnosis. While brain donation is encouraged in all patients, it is performed in very few, and representativeness of the cohort might not be precise for all patients with MND. We retrospectively reviewed clinical and neuropathological data and describe the main clinical, genetic and pathogenic features, comparing neuropathologic groups between MND with and without FTLD changes and aiming to define specific subgroups. We included brain samples from 124 patients, 44 of whom (35.5%) had FTLD neuropathologic features (i.e. FTLD-MND). Pathologic TDP-43 aggregates were present in 93.6% of the cohort and were more extensive (higher Brettschneider stage) in those with concurrent FTLD (P < 0.001). Motor symptom onset was more frequent in the bulbar region in FTLD-MND cases than in those with isolated MND (P = 0.023), with no differences in survival. We observed a better clinicopathological correlation in the MND group than in the FTLD-MND group (93.8% versus 61.4%; P < 0.001). Pathogenic genetic variants were more common in the FTLD-MND group, especially C9orf72. We describe a frequency of FTLD of 35.5% in our series of neuropathologically confirmed cases of MND. The FTLD-MND spectrum is highly heterogeneous in all aspects, especially in patients with FTLD, in whom it is particularly difficult to define specific subgroups. In the absence of definite biomarkers, neuropathology remains a valuable tool for a definite diagnosis, increasing our knowledge in disease nosology.

Intestinal Obstruction Due to Ileotransverse Anastomosis Stenosis Secondary to Crohn's Disease: A Case Report

Introduction: Crohn's disease is a chronic inflammatory bowel disease that can affect any part of the gastrointestinal tract. This report explores a case of intestinal obstruction resulting from stenosis of ileotransverse anastomosis, secondary to Crohn's disease. Epidemiology: The macroscopic features of Crohn's disease vary, including patchy inflammation, ulcers, and stenosis. Stenosis is a common occurrence, particularly in the terminal ileum, affecting 30-40% of individuals with Crohn's disease. OBJECTIVE: To describe a clinical case of intestinal obstruction due to ileotransverse anastomosis stenosis secondary to Crohn's disease, aiming to recognize its behavior and determine surgical management in patients with a high suspicion of this condition. Patient and Method: A 35-year-old female diagnosed with ankylosing spondylitis, recent Crohn's disease, and intestinal obstruction. Surgical history includes exploratory laparotomy, right hemicolectomy, and ileotransverse anastomosis due to acute appendicitis. Current symptoms led to surgical exploration, revealing extensive adhesions and stenosis at the anastomosis. Results: The patient underwent resection of the affected intestinal segment and the creation of a terminal ileostomy, successfully resolving the obstruction. Comprehensive preoperative evaluation, diagnostic confirmation through imaging, and appropriate surgical intervention played critical roles in achieving a positive outcome. Discussion: The discussion emphasizes the complexities associated with Crohn's disease surgery, highlighting common complications such as infection, fistulas, and anastomotic stenosis. The case underscores the need for a cautious surgical approach and the importance of early consideration of Crohn's disease in patients with intestinal obstruction. Conclusions: This case report underscores the significance of recognizing Crohn's disease in patients presenting with intestinal obstruction. Appropriate surgical management, though challenging due to the heightened risk of complications, is essential for improving treatment outcomes. A comprehensive approach, from timely diagnosis to surgical intervention, is crucial for effectively addressing Crohn's disease manifestations and enhancing patient quality of life.

Diagnostic Approach and Treatment Options for Pediatric Cases of Grisel's Syndrome Post Otolaryngology Procedure: A Systematic Review.

Grisel's syndrome is an uncommon cervical spine condition marked by non-traumatic rotational subluxation of the atlantoaxial joint. This systematic review aims to collect potential evidence from relevant studies that reported symptoms, diagnostic methods, and management options among pediatric cases of Grisel's syndrome post otolaryngology procedures, which can aid and guide the diagnosis and management in clinical practice.We conducted both electronic and manual search strategies within the potential databases and included case reports, case series, and articles; however, review papers and correspondence papers were excluded. The post-otolaryngology procedures included adenoidectomy, tonsillectomy, tympanoplasty, cochlear implantation, double opposing Z plasty and pharyngeal flap, and adenotonsillectomy. In this systematic review, we identified and analyzed 20 studies encompassing a total of 24 pediatric patients with Grisel's syndrome following otolaryngology procedures. The patient demographics revealed a fairly even distribution between females (45.83%) and males (50.00%), with ages ranging from 2.5 to 12 years. The most common otolaryngology procedures associated with Grisel's syndrome were adenoidectomy (29.17%) and adenotonsillectomy (33.33%). Clinical symptoms included neck pain (75.00%), torticollis (50.00%), and limited neck mobility (20.83%), while diagnostic confirmation primarily relied on CT scans (50.00%). Treatment strategies varied, with conservative measures being the most frequent choice, followed by surgical interventions in four cases (16.67%). Complications were reported in 20.83% of cases. Due to the rarity of this condition, our findings are limited to case reports only, which may limit the generalizability of results. Grisel syndrome can be effectively managed through conservative treatment, including antibiotics and anti-inflammatory drugsif diagnosed timely. Early diagnosis and prompt management are essential to avoid neurological and fatal complications.This analysis would contribute to improving clinical knowledge and treatment strategies while providing additional insights into this rare condition.

The impact of COVID-19 on 2020 monthly incidence trends of primary brain and other CNS tumors.

To mitigate disease spread, restrictions implemented in the United States surrounding the COVID-19 pandemic created an environment that led to delays in cancer diagnosis. The data needed to accurately analyze the impact of the pandemic on brain and CNS tumor incidence has not been available until now. Utilizing incidence data from the Central Brain Tumor Registry of the United States (CBTRUS) we analyzed the impact of the COVID-19 pandemic on primary brain and other CNS tumor incidence for the first year of the pandemic. Monthly age-adjusted incidence rates and incidence trends for 2019 and 2020 were determined for age at diagnosis, sex, race, ethnicity, diagnostic confirmation, behavior, tumor histopathology, and county-level urbanization. Monthly incidence rate ratios comparing 2020 and 2019 were evaluated for the same factors. Overall, there was a notable decrease in incidence rates in March-May 2020 when compared to 2019. These decreases were driven by nonmalignant tumors, with a 50% incidence decrease between March 2020 and 2019. Individuals who were Black had a larger incidence decrease in early 2020 than individuals who were White. Radiographically confirmed tumors saw larger incidence decreases than histologically confirmed tumors. There were no changes in monthly incidence of glioblastoma in 2020 compared to 2019. These data provide evidence that disruptions in medical care, such as governmental and health care mandates, in response to the COVID-19 pandemic resulted in an overall decreased incidence of primary brain tumors in early 2020.

Tumor neuroectodérmico primitivo na coluna cervical de um cão - Relato de Caso

ABSTRACT A case of peripheral primitive neuroectodermal tumor in the cervical region of a canine is described. The patient was a canine, male, five years old, large size, with acute neurological clinical signs, severe neck pain and tetraplegia. On computed tomography, an oval-shaped mass located dorsally to cervical vertebrae C4 to C7 was observed, with infiltration over the spinal cord between vertebrae C4 and C5, discreetly widening the dorsal intervertebral foramina of the cervical vertebrae and compressing the dorsal portion of the spinal cord of this segment. Under microscopy, the neoplastic cells were small, irregular in shape and with scarce cytoplasm. Immunoreactivity for vimentin, which can only be expressed in PTNEs tumors, was decisive for diagnostic confirmation. Additionally, the positivity of the S-100 protein, which is expressed in neuroectodermal cells mainly of the neural crest cells, reinforced the classification as PTNE, and the negativity in the expression for glial fibrillary acidic protein (GFAP) ruled out the presence of small cell glioma of the central nervous system. Based on the clinical history, imaging exams, cellular morphology and mainly on immunohistochemical staining, the diagnosis of primitive neuroectodermal tumor (PTNE) with infiltration and compression of the spinal cord in the cervical region of the dog was confirmed, considered uncommon in this species.

Coexistence of Allergic Diseases in Pediatric Systemic Lupus Erythematosus Patients: Prevalence, Clinical manifestation and Severity.

Objective. This study aimed to evaluate allergic diseases in pediatric patients with SLE and their association with SLE disease activity. Method. Patients with SLE aged ≤18 years were enrolled. Allergic diseases were screened using the International Study of Asthma and Allergies in Childhood questionnaire. Patients with a positive allergic disease screen were evaluated by a pediatric allergist for diagnostic confirmation and severity assessment. Results. Out of 118 patients, 16 patients (13.56%) were confirmed to have 1 or more allergic diseases; fourteen with allergic rhinitis, 4 with asthma, and 2 with atopic dermatitis. Two patients had severe-persistent allergic rhinitis and one patient had undiagnosed, uncontrolled severe asthma. No statistically significant correlations between the severity of allergic diseases and SLE disease activity were identified. Conclusions. The overall prevalence of allergic disease among pediatric patients with SLE is within the range of the general population. Severe and undiagnosed allergic diseases and SLE can coexist.

Aesthetic Evaluation Post Fibroadenoma Excision with Periareolar Incision

Background: Fibroadenomas, benign breast tumors, often necessitate surgical excision for diagnostic confirmation and symptom relief. The periareolar incision technique has gained popularity due to its ability to provide access for tumor excision while minimizing visible scarring and preserving breast aesthetics. Objective: This study was done to evaluate the cosmetic results following fibroadenoma removal via periareolar incision. Study Design: Prospective, observational study. Settings: Department of Surgery - Liaquat University Hospital, Hyderabad Pakistan. Duration: Three years from 2017 to 2020. Methods: The study included women aged 18 years or older with a confirmed diagnosis of fibroadenoma through imaging and biopsy, who were scheduled for fibroadenoma excision using a periareolar incision technique. All patients underwent excision of the fibroadenoma using the periareolar incision method. Dissection was carefully performed to access the fibroadenoma while minimizing disruption to surrounding tissues. The fibroadenoma was excised with precision to minimize trauma to adjacent structures. Aesthetic assessment was conducted using a scoring system ranging from 1 to 4, with patients providing subjective ratings of their cosmetic outcomes. Data collection was done through a specially designed proforma. Results: The mean age of the patients was 29.76 years, with a standard deviation of 5.51 years. The majority of patients, comprising 45.10%, reported perceiving a good aesthetic outcome during their final follow-up, indicating almost complete satisfaction. Additionally, 43.70% of patients perceived the outcome as fair, expressing partial satisfaction. Conversely, 11.30% of patients perceived the outcome as poor, reflecting dissatisfaction. The p-values for both age group and residence are above 0.05, indicating that there is no statistically significant relationship between these factors and aesthetic condition. Conclusion: The use of periareolar incision for excising fibroadenomas shows promising potential for favorable outcomes. The aesthetic acceptance of the surgical results was generally perceived as good. Rare instances of unfavorable outcomes were associated with factors such as incision extension.

Spontaneous penile abscess: A case report with literature review

Penile abscess is an unusual pathology in the practice of urologists, given the rarity of cases. It can occur spontaneously or be secondary to trauma, injection, or endourethral procedures. Diagnostic confirmation is achieved through imaging. Treatment involves surgical or radiological drainage, depending on the size and location of the abscess, along with antibiotic therapy. Postoperative complications may include erectile dysfunction and penile deviation, necessitating subsequent surgical repairs.

Cervical Cytology Preserves Histologically Detected Surface Epithelial Slackening, Unique to the POLE Mutation-subtype in Endometrial Cancer.

Among the four genomic subtypes of endometrial cancer, distinguishing between the DNA polymerase epsilon mutation (POLEmut) and no specific molecular profile (NSMP) subtypes requires genomic profiling owing to the lack of surrogate immunohistochemical markers. We have previously found that, histologically, the POLEmut-subtype exhibits surface epithelial slackening (SES). Therefore, to improve subtype identification, we aimed to extract cytological features corresponding to SES in POLEmut-subtype cervical cytology specimens. We analyzed 104 endometrial cancer cervical cytology specimens, with integrative diagnosis confirmation via histology, immunohistochemistry, and genomic profiling. Cytological features were evaluated for the presence of atypical glandular cells, atypical cell appearance in single cells and clusters, and cytological SES and the presence of tumor-infiltrating inflammatory cells in clusters. Based on cervical cytology, the POLEmut- and p53mut-subtypes exhibited more frequent atypical cells in smaller clusters, giant tumor cells, and cytological SES patterns than the NSMP-subtype. Tumor-infiltrating lymphocytes were frequent in the POLEmut- and mismatch repair-deficient subtypes. Histologically-detected SES as well as other endometrial cancer features may be preserved in the atypical cell clusters observed in cervical cytology specimens. Cytological detection of SES and of smaller clusters of atypical cells and inflammatory cells with moderate atypia are suggestive of POLEmut-subtype. Integrative diagnosis including genomic profiling remains critical for diagnostic confirmation.

Electroconvulsive therapy for catatonia in anti-NMDA receptor encephalitis: A case series

BackgroundAnti-NMDAR encephalitis is the most common cause of immune-mediated catatonia. Case seriesThree females presented with neuropsychiatric symptoms and were empirically treated with first-line immunotherapy and ovarian teratoma resection for suspected autoimmune encephalitis, preceding diagnostic confirmation via NMDAR antibody positivity. They required escalating large doses of benzodiazepines for refractory malignant catatonia resulting in ICU level care. ECT treatments were initiated, and patients were gradually noted to have clinical improvement as was measured by the Bush-Francis Catatonia Rating Scale. ConclusionsClinicians should recognize catatonia among patients with suspected anti-NMDAR encephalitis and consider the early implementation of ECT into treatment algorithms.

Sociodemographic and clinical profile of infected elderly people hospitalized by COVID-19 in a private hospital in Goiânia

Introduction: COVID-19 is an acute respiratory disease, with a higher prevalence of the virus affecting male patients, aged between 51 and 70 years. Objective: To describe the sociodemographic and clinical profile of elderly people infected with COVID-19 admitted to a private hospital in Goiânia, GO. Method: This is a descriptive, cross-sectional, retrospective study that was carried out in a hospital specialized in combating COVID-19. The study population involved elderly people over 60 years of age who were admitted to the institution from August 2020 to January 2021 and diagnosed with COVID-19. Results: The results demonstrated that the majority of elderly, male, hospitalized patients came from the emergency department, with an average age of 72 years, highlighting the data for diagnostic confirmation with RT-PCR before hospitalization, and the main warning symptoms were: dry cough and shortness of breath. Conclusion: Despite the limitations of the study, the findings may contribute to symptom tracking strategies to better track pathology and conditions that progress to hospitalization or death.

Long-COVID: symptomatic and functional analysis post pulmonary rehabilitation

Objective: to analyze the symptomatic and functional profile of patients with long-term COVID-19 after physiotherapeutic intervention. Methods: This was an analytical-descriptive, longitudinal, prospective and quantitative study, of both sexes, with diagnostic confirmation of post-COVID-19 patients referred for pulmonary rehabilitation, after spirometry and chest computed tomography. Patients answered a sociodemographic questionnaire and were submitted to the following scales: Medical Research Council (MRC) and Functional Independence Measure (FIM) to measure the degree of dyspnea and functionality of patients. Data collection was performed using Microsoft Excel software version 2010 for descriptive statistics, with data correlation and bivariate analysis, using the R software (R Core Team) version 2019, considering a significance level of 95%, p&lt;0.05. The research was approved by the Research Ethics Committee under opinion number 4,897,987. Results: The sample consisted of 30 volunteers for COVID-19 after pulmonary rehabilitation, in which the male gender was prevalent (73%), the mean age was 53.4 years and 60% had the disease in its severe form; the first symptoms of the disease were not related to the history of hospitalization; a mild degree of dyspnea (MRC), restrictive disorders on spirometry and changes in cognitive behavior were observed in FIM category 6. Conclusion: It is inferred that the patients had a positive outcome in the long-term functional impact, however, the persistence of some symptoms was still detected. This finding highlights the need for continuous monitoring, as the post-COVID-19 syndrome premise is increasingly strengthened, causing long-term public health disorders.

Exploring Diagnostic Performance of a Screening Instrument for ADHD and DSM-5 Number of Symptoms Criterion in Primary School Students From Mozambique

Objective: To explore the ADHD diagnostic performance of a screening instrument, and which DSM-5 ADHD number of symptoms (criterion A) was best associated with impairment in a sample of students from 106 primary schools in Nampula, Mozambique. Methods: A random sample of 748 students were assessed using SNAP-IV and 152 youths (76 positive and 76 negative screeners) were invited for psychiatric diagnostic confirmation. Results: The performance of the screening instrument for predicting ADHD diagnosis was poor (all AUCs < 0.53). No other cut-off worked best in predicting impairment than the six symptoms cutoff suggested by DSM-5 for both inattention (AUC = 0.78; 95% CI [0.69, 0.86]) and hyperactivity/impulsivity (AUC = 0.75; 95% CI [0.67, 0.84]). Conclusion: Our findings highlight the adequacy of the DSM-5 ADHD criterion A in an African culture but indicate low diagnostic performance of a screening instruments only based in parent or teacher reports on symptoms to predict ADHD diagnosis.

Delayed postoperative reactions to metamizole: a diagnostic challenge.

Background. Metamizole, a non-steroidal anti-inflammatory drug from the pyrazolone group, is a frequent cause of immediate hypersensitivity reactions and, more rarely, of delayed drug hypersensitivity reactions. Due to its favorable pharmacokinetic characteristics, metamizole is widely used in the postoperative period for pain control. Methods. Retrospective study of patients referred for allergological study between January 2012 and June2022 for postoperative hypersensitivity reactions. Clinical and diagnostic data were collected through review of patients' medical records. Twenty patients with postoperative hypersensitivity reactions were referred, of which 10 presented delayed reactions. We analyzed the results of skin prick, intradermal and patch tests performed with an intravenous metamizole solution as well as provocation tests performed with metamizole and acetylsalicylic acid. Cross-reactivity to non-steroidal anti-inflammatory drugs was excluded by confirmation of clinical tolerance to non-steroidal anti-inflammatory drugs or by acetylsalicylic acid provocation test. Results. In 7 of the 10 patients a delayed reaction to metamizole was diagnosed. These reactions were characterized as maculopapular exanthema, occurring in multiple postoperative settings. Skin tests were negative, except in one patient with late mild erythema in the ipsilateral upper limb and no reaction at the site of intradermal injection. Delayed hypersensitivity was demonstrated by late positive metamizole provocation tests. Conclusions. This study demonstrated that for a correct diagnosis a high degree of suspicion about possible delayed hypersensitivity drug reactions to metamizole in the postoperative setting is needed. In the investigation, provocation test with metamizole was decisive for diagnostic confirmation.

Residual serum fibrinogen as a universal biomarker for all serotypes of Myasthenia gravis

Myasthenia Gravis (MG) is an autoimmune disease associated with severe neuromuscular weakness. Diagnostic confirmation of MG is typically delayed and secured in about 85% and 50% of patients with generalized and ocular MG, respectively with serum antibodies. We have identified a sensitive and specific diagnostic biomarker for various MG serotypes with quantitative proteomics. Serum proteomes of 18 individuals (MG patients, healthy controls (HC), Rheumatoid Arthritis (RA) were quantified in a pilot study and occurrence of high residual fibrinogen was validated by immunoblotting and further investigated by targeted mass spectrometry on the sera of 79 individuals (31 MG of various serotypes, 30 HC, 18 RA). Initial proteomic analysis identified high residual fibrinogen in MG patient sera which was then validated by antibody-based testing. Subsequently, a blinded study of independent samples showed 100% differentiation of MG patients from controls. A final serological quantification of 14 surrogate peptides derived from α-, β-, and γ-subunits of fibrinogen in 79 individuals revealed fibrinogen to be highly specific and 100% sensitive for MG (p < 0.00001), with a remarkable average higher abundance of > 1000-fold over control groups. Our unanticipated discovery of high levels of residual serum fibrinogen in all MG patients can secure rapid bedside diagnosis of MG.

Angiosarcoma with Osteoclast-Like Giant Cells: A Rare Presentation and Review of Literature

Abstract Introduction/Objective Diagnosing angiosarcoma can be challenging, especially in cases with atypical morphology. For the unsuspecting pathologist, some histopathologic features can be misleading, especially when presenting as the predominant component of a tumor or in unusual locations. Herein, we describe an osteoclast-like giant cell-rich angiosarcoma, which initially presented as a groin mass followed by pulmonary metastasis. Methods/Case Report A 54-year-old woman presented with a golf ball size mass near her right groin that she noticed 1 year ago. MRI demonstrated a heterogeneous complex mass with solid and cystic components within the right gracilis muscle. Following the diagnosis of poorly differentiated malignant neoplasm on biopsy, the patient underwent wide excision. Histopathologic examination revealed epithelioid to “rhabdoid-like” cells arranged in a fascicular pattern interspersed with osteoclast-like giant cells. Immunohistochemical stains showed tumor cells are positive for vimentin, CD10, CD31 (focal), CD99 (focal), while negative for Desmin, CD34, SMA, AE1AE3, HMB45, ALK1, CD30, S100, and Melan-A. CD68 highlighted only osteoclast-like giant cells. The lesion was diagnosed as undifferentiated pleomorphic sarcoma (UPS). Nine months later, chest CT showed a 1.3 cm lung nodule. The resected nodule was immunohistochemically and morphologically similar to the groin mass, including the presence of osteoclast-like giant cells. In addition, tumor cells were also diffusely positive for ERG and FLI1. Results (if a Case Study enter NA) NA Conclusion To our knowledge, this is the first report of soft tissue angiosarcoma with osteoclast-like giant cells presenting with lung metastasis. A high index of suspicion for an angiosarcoma in tumors occurring in proximal sites, characterized by epithelioid to “rhabdoid-like” cells, despite the presence of many osteoclast-like giant cells, is crucial to avoid misdiagnosis. Awareness of this histopathologic pattern and diagnostic confirmation with necessary immunohistochemical stains is important to avoid misinterpretation. UPS is essentially a diagnosis of exclusion, which should only be considered following extensive workup to eliminate all other possibilities.

Caudal regression syndrome type 1 with minimally invasive computed tomography and magnetic resonance imaging autopsy: a case report

BackgroundCaudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects. We report a rare presentation of type 1 caudal regression syndrome in a pregnant woman with preexisting diabetes, in which early recognition of severe fetal anomalies on routine antenatal ultrasound facilitated confirmation with fetal magnetic resonance imaging to characterize extent of disease and prognosticate fetal outcome.Case presentationThis case of type 1 caudal regression syndrome in the setting of maternal pregestational diabetes mellitus resulted in stillbirth. The mother was a 29-year-old Caucasian primigravida female with past medical history of poorly controlled type 2 diabetes managed with metformin prior to pregnancy, prompting admission for glucose management and initiation of insulin at 13 weeks. Baseline hemoglobin A1c was high at 8.0%. Fetal ultrasound at 22 weeks was notable for severe sacral agenesis, bilateral renal pelvis dilatation, single umbilical artery, and pulmonary hypoplasia. Fetal magnetic resonance imaging at 29 weeks showed absent lower two-thirds of the spine with corresponding spinal cord abnormality compatible with type 1 caudal regression syndrome. The mother delivered a male stillborn at 39 and 3/7 weeks. Minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy were performed to confirm clinical findings when family declined conventional autopsy. Etiology of sacral agenesis was attributed to poorly controlled maternal diabetes early in gestation.ConclusionMaternal preexisting diabetes is a known risk factor for development of congenital malformations. This rare case of type 1 caudal regression syndrome in a mother with preexisting diabetes with elevated hemoglobin A1c highlights the importance of preconception glycemic control in diabetic women and the utility of fetal magnetic resonance imaging for confirmation of ultrasound findings to permit accurate prognostication. Additionally, minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy can facilitate diagnostic confirmation of clinical findings in perinatal death due to complex congenital anomalies while limiting the emotional burden on bereaved family members who decline conventional autopsy.

Integration of point-of-care screening for type 2 diabetes mellitus and hypertension into the COVID-19 vaccine programme in Johannesburg, South Africa

BackgroundSouth Africa grapples with a substantial burden of non-communicable diseases (NCDs), particularly type 2 diabetes (diabetes) and hypertension. However, these conditions are often underdiagnosed and poorly managed, further exacerbated by the strained primary healthcare (PHC) system and the disruptive impact of the COVID-19 pandemic. Integrating NCD screening with large-scale healthcare initiatives, such as COVID-19 vaccination campaigns, offers a potential solution, especially in low- and middle-income countries (LMICs). We investigated the feasibility and effectiveness of this integration.MethodsA prospective cohort study was conducted at four government health facilities in Johannesburg, South Africa. NCD screening was incorporated into the COVID-19 vaccination campaign. Participants underwent COVID-19 rapid tests, blood glucose checks, blood pressure assessments, and anthropometric measurements. Those with elevated blood glucose or blood pressure values received referrals for diagnostic confirmation at local PHC centers.ResultsAmong 1,376 participants screened, the overall diabetes prevalence was 4.1%, combining previously diagnosed cases and newly identified elevated blood glucose levels. Similarly, the hypertension prevalence was 19.4%, comprising pre-existing diagnoses and newly detected elevated blood pressure cases. Notably, 46.1% of participants displayed waist circumferences indicative of metabolic syndrome, more prevalent among females. Impressively, 7.8% of all participants screened were potentially newly diagnosed with diabetes or hypertension. Approximately 50% of individuals with elevated blood glucose or blood pressure successfully linked to follow-up care within four weeks.ConclusionOur study underscores the value of utilizing even brief healthcare interactions as opportunities for screening additional health conditions, thereby aiding the identification of previously undiagnosed cases. Integrating NCD screenings into routine healthcare visits holds promise, especially in resource-constrained settings. Nonetheless, concerted efforts to strengthen care linkage are crucial for holistic NCD management and control. These findings provide actionable insights for addressing the NCD challenge and improving healthcare delivery in LMICs.

Ocular manifestations and diagnosis of tuberculosis involving the uvea: a case series

BackgroundOcular tuberculosis (TB) affects 1–2% of patients with TB, with TB uveitis being the most common. This series aims to look at different manifestations of tuberculosis associated uveitis and the different tests used to make a presumptive or definitive diagnosis.MethodsPatients diagnosed with TB related uveitis in Hong Kong SAR between 2017 and 2020 were reviewed. Demographics, clinical features, investigations and treatments of patients were collected.ResultsFifteen eyes in 10 patients with a mean age 57.30 ± 10.17 years were included. The ocular manifestations on presentation included anterior uveitis (50%), posterior uveitis (40%) and panuveitis (10%), where 70% of them were unilateral and 30% were bilaterally infected; on subsequent visits the manifestations further developed into posterior uveitis (40%), panuveitis (40%) and anterior uveitis (20%), where 50% of them were unilateral and 50% bilateral infected. Tuberculosis tests were positive in 5 out of 7 Mantoux tests, 4 out of 4 T-SPOT TB tests, 3 out of 4 QuantiFERON-TB gold tests, 1 out of 1 lymph node biopsy, 0 out of 9 chest x-rays, and no aqueous fluid polymerase chain reaction (PCR) was tested. Vision impairing complications were seen in 6 patients where retinal vasculitis was most commonly seen. With anti-TB treatment prescribed in 9 patients, side effects occurred in 5 patients, including ocular hypertension, disc swelling, and hepatitis.ConclusionsOcular TB infections may manifest in various forms, and can involve different parts of the eye. Bilateral involvement of TB is commonly presented, and both eyes should be evaluated at every follow up. When TB is suspected in a patient, diagnostic confirmation requires multimodal investigations where a negative chest x-ray is not useful in ruling out ocular TB infections, especially in an endemic region like Hong Kong. In these patients, it is crucial to have a high index of suspicion for TB, even when they do not demonstrate classical respiratory signs and symptoms of TB.

Pilocytic astrocytoma in adults: Histopathological, immunohistochemical and molecular study with clinical association

Pilocytic astrocytoma is the most common primary CNS neoplasm in children and adolescents, rare after the first two decades of life. While some authors report a favorable prognosis in the adult age group with the tumor, others have associated it with higher mortality. The molecular alteration most observed in cases of pilocytic astrocytoma in the pediatric group is the BRAF-KIAA1549 gene fusion, and there are still few studies confirming the presence of this fusion in the adult population. This work investigated genetic alterations involving the 7q34 region in BRAF gene in 21 adult individuals with pilocytic astrocytoma, by FISH. In addition, was identified the immunohistochemical expression of BRAFV600E, correlating these findings with histopathological and clinical ones. BRAF-KIAA1549 fusion appeared in only one case, while in two other cases were found deletions related to the FAM131B-BRAF fusion, suggesting that maybe the latter is more frequently in this population. Through the evaluation of immunoreactivity, 71% of the cases were considered positive and 29% negative. Cases considered positive for BRAFV600E immunoreactivity can potentially be treated through drug therapy with BRAF inhibitors; however, it is always recommended to carry out a molecular study for diagnostic confirmation. This is the first Brazilian study that aimed to investigate possible genetic alterations in the BRAF gene in pilocytic astrocytomas, specifically in adults. Only 1 patient died, but due to operative complications and not the disease itself, suggesting a good evolution of these individuals.