Common Etiology Research Articles

Screening patients in general practice for advanced chronic liver disease using an innovative IT solution: The Liver Toolkit.

Identifying patients with undiagnosed advanced chronic liver disease (ACLD) is a public health challenge. Patients with advanced fibrosis or compensated cirrhosis have much better outcomes than those with decompensated disease and may be eligible for interventions to prevent disease progression. A cloud-based software solution ("the Liver Toolkit") was developed to access primary care practice software to identify patients at risk of ACLD. Clinical history and laboratory results were extracted to calculate aspartate aminotransferase-to-platelet ratio index and fibrosis 4 scores. Patients identified were recalled for assessment, including Liver Stiffness Measurement (LSM) via transient elastography. Those with an existing diagnosis of cirrhosis were excluded. Existing laboratory results of more than 32,000 adults across nine general practices were assessed to identify 703 patients at increased risk of ACLD (2.2% of the cohort). One hundred seventy-nine patients (26%) were successfully recalled, and 23/179 (13%) were identified to have ACLD (LSM ≥10.0kPa) (10% found at indeterminate risk [LSM 8.0-9.9kPa] and 77% low risk of fibrosis [LSM <8.0kPa]). In most cases, the diagnosis of liver disease was new, with the most common etiology being metabolic dysfunction-associated steatotic liver disease (n=20, 83%). Aspartate aminotransferase-to-platelet ratio index ≥1.0 and fibrosis 4 ≥3.25 had a positive predictive value for detecting ACLD of 19% and 24%, respectively. Patients who did not attend recall had markers of more severe disease with a higher median aspartate aminotransferase-to-platelet ratio index score (0.57 vs. 0.46, p=0.041). This novel information technology system successfully screened a large primary care cohort using existing laboratory results to identify patients at increased risk ACLD. More than 1 in 5 patients recalled were found to have liver disease requiring specialist follow-up.

A Comparative Study of Community-acquired Acute Kidney Injury and Hospital-acquired Acute Kidney Injury from a Tertiary Care Hospital in North India.

In this observational study, clinical characteristics, etiologies, and outcomes of patients admitted to the hospital with community-acquired acute kidney injury (CAAKI) have been compared in contrast to those who hospital-acquired Acute Kidney Injury (HAAKI). This was a prospective study of adults aged 18 years or above diagnosed with acute kidney injury (AKI) over a period of 17 months at a tertiary care hospital. 230 patients had AKI with the mean age of the study population being 45.33 ± 12.68 years. 178 (77.4%) patients were enrolled from medical unit, 25 (10.7%) from surgical unit, and 27 (11.7%) from obstetrical unit. The observed incidence of AKI was 15/1000 admissions. About 58.2% had CAAKI and 96 (43.7%) had HAAKI. Out of 230 patients, 170 (73.9%) patients were male and 60 (26.1%) were female. Sepsis was the most common (52.1%) etiology of AKI among the medical cases. Urosepsis, scrub typhus, and pneumonia were the most common causes of AKI. Sixty percent of AKI was Kidney Disease Improving Global Outcomes Stage 1 or 2 and 40% was in Stage 3. Oliguria was seen in 56.5%, hyperkalemia in 34.7%, fluid overload in 6.1%, and metabolic acidosis in 22.6%. The majority of patients had multiple organ involvement (52.1%) at the time of enrollment. About 116 (50.4%) had lung injury requiring mechanical ventilation and 95 (41.3%) were on inotropes. Mortality occurred in 19.5%. Anemia, the use of vasopressor drugs, and the need for intensive care support were independent predictive factors for mortality. AKI was common in hospitalized patients and leads to significant inhospital mortality. AKI is largely a CAAKI, and the lesser extent is due to HAAKI. Many causes are potentially preventable. Early fluid resuscitation, effective antibiotics, appropriate antidotes, and timely referral of established AKI patients to centers with dialysis facilities can improve AKI outcomes.

Clinical Spectrum of Acute Post-streptococcal Glomerulonephritis in Children: A Kashmir Experience.

Background In the pediatric population, acute post-streptococcal glomerulonephritis (PSGN) is a common glomerular etiology of hematuria and acute hypertension leading to hospitalization. We conducted this study to know the clinical profile and occurrence of acute PSGN in patients presenting with features of acute nephritic syndrome. Methods This prospective observational study was conducted on children aged between two and 18 years, presenting with clinical features of acute glomerular nephritis (AGN). After due ethical considerations, all eligible patients were enrolled and underwent detailed clinical assessment, laboratory, and imaging evaluation, followed by protocolized treatment. Relevant data were collected and analyzed to reach valid results. Results Out of 60 patients with AGN, PSGN was found in 83.3% of the patients (50/60). The age group under five years wasthe most commonly involved, with a male/female ratio of 1.6:1. Around half of the studied patients were from the lower middle class, and 40 (80%) were from rural backgrounds. Facial puffiness was the most common clinical presentation, seen in 45 (90%) patients. Hypocomplementemia and proteinuria were seen in all PSGN patients. Pyoderma was the most common preceding infection, seen in 38 (76%) patients, followed by pharyngitis. Acute kidney injury (AKI) was the most common complication, seen in 12 (24%) patients. Complete resolution of the signs and symptoms was seen in 37 (74%) patients at the time of discharge, which increased to 47 (94%) patients at six months post discharge. Conclusion PSGN stands to be the most common cause of pediatric AGN. The population under five years of age, with a past history of pyoderma, is more predisposed to PSGN. The potential for the occurrence of AKI and other life-threatening complications is high, for which early diagnosis and institution of proper treatment would be very beneficial.

Aetiologies of Leg Pain among Patients Presenting to a Vascular Surgery Clinic.

To determine the frequency and pattern of different aetiologies of leg pain among patients visiting vascular surgery clinics. Cross-sectional study. Place and Duration of the Study: Vascular Surgery Clinics of the Aga Khan University Hospital, Karachi, Pakistan, between February 2021 and June 2023. This study examined patients presenting with leg pain for the first time at vascular surgery clinics. The socio-demographic and clinical data including the clinical symptoms, physical examination findings, and management of leg pain were noted using a specially designed proforma. In a total of 142 patients (200 limbs), 82 (57.7%) were females and 60 (42.3%) were males, with a mean age of 46.8 ± 15.1 years. The patients' mean body mass index (BMI) was 30.2 ± 7.9 kg/m2. Ninety-one (64.1%) patients had a predominantly standing job compared to 51 (35.9%) patients who had a predominantly sitting job. The most common aetiology of leg pain was chronic venous insufficiency (CVI), diagnosed in 107 (53.5%) patients, followed by neurogenic pain [41 (20.5%)], musculoskeletal pain including knee osteoarthritis [30 (15.0%)], and arterial insufficiency [22 (11.0%)]. Conclusion: CVI followed by neuropathic pain was the leading cause of leg pain in vascular surgery clinics at a tertiary care hospital. Chronic venous insufficiency, Arterial insufficiency, Vascular surgery, Leg pain, Musculoskeletal pain, Neuralgia.

Patient-Reported Outcome Screens for Cognitive Dysfunction and Predicts Admissions in Cirrhosis

IntroductionHepatic encephalopathy (HE) is a frequent complication of cirrhosis, leading to preventable hospitalizations and increased mortality. Despite the availability of validated neuro-psychometric tests to diagnose HE, only 10% of clinicians regularly screen for HE due to lack of time, equipment, and trained personnel. Materials and MethodsWe studied the association between patient-reported cognitive function and the National Institutes of Health Toolbox Cognition Battery (a validated measure of HE) in patients with cirrhosis. A single-center prospective study of adult patients undergoing liver transplantation evaluation was performed from 10/2020 to 12/2021. Cognition was assessed using the National Institutes of Health Toolbox Cognition Battery and a brief Patient-Reported Outcomes Measurement Information System (PROMIS) survey. ResultsTwenty-three liver transplantation candidates were enrolled; the mean age was 56.4 (±9.7) years, 39% were female and the most common etiologies of cirrhosis were primary biliary cirrhosis/primary sclerosing cholangitis/overlap syndrome (30%), hepatitis C (22%) and alcohol-associated liver disease (22%). The mean MELD-Na was 14.9 (±6.4). The mean PROMIS Cognitive Function T-score (PROMISCF) was 49.2 (±9.6). The mean T-scores for the List Sort Working Memory test, Flanker Inhibitory Control and Attention test, and Pattern Comparison Processing Speed test were 46.4 (±9.9), 37.8 (±6.2), and 50.22 (±16.4), respectively. PROMISCF correlated with the List Sort Working Memory test (r = 0.45, P = .03). The mean hospitalization rate was 1.6 days admitted per month. On adjusted multivariate analysis, PROMISCF predicted total hospitalization days (P < .001), hospital admissions (P = .01), and hospitalization rate (P < .001). ConclusionsA brief survey can screen for HE and predict hospitalizations in patients with cirrhosis.

Prevalence and characteristics of chronic kidney disease in patients attending the nephrology clinics of the National Hospital of Sri Lanka: a cross-sectional study

Introduction: Chronic kidney disease (CKD) has become a major health concern on a global scale, and its impact is also significant in Sri Lanka. Diabetes mellitus and hypertension are identified as the main causes of CKD in Sri Lanka. Chronic kidney disease of unknown origin (CKDu) has undeniably surfaced as a substantial factor in the prevalence of CKD in recent decades, notably in specific geographic areas worldwide. Methods: Over a course of three months, a descriptive cross-sectional study was carried out at the outpatient clinics of the National Hospital of Sri Lanka to describe the socio-demographic factors related to CKD and to understand the aetiological factors of the disease within CKD patients attending the clinics.Results: The study involved 387 CKD patients, with an average age of 53 years. Males accounted for 62.8%. Of total participants, CKD Stage V with or without regular dialysis consisted of 26.5% and transplant patients consisted of 26.8%. Most (88.1%) patients were from the western province while 11.9% were from other provinces. The prevalence of CKD secondary to diabetes mellitus was 35.9% followed by hypertensive kidney disease (31.3%). The most common aetiology for CKD in the western province was diabetes mellitus (37.2%) followed by hypertension (31.5%). The prevalence of CKDu was 7.9% in the western province and 13.0 % in other regions. Diabetes mellitus (p&lt; .001) and glomerulonephritis (p&lt; .001) were significantly associated with age groups above and below 40 years.Conclusion: This study highlights diabetes and hypertension as the predominant causes of CKD among patients in both the western province and other provinces of Sri Lanka. It also highlights the heightened prevalence of hypertensive kidney disease in the young population compared to previous studies.

Tracheostomy and inpatient outcomes among children with congenital central hypoventilation syndrome: A kids' inpatient database study.

Congenital central hypoventilation syndrome (CCHS) is a rare disease predisposing children to respiratory failure due to abnormal ventilatory drive. Variability in hypoventilation and respiratory support need have been reported. We aim to identify clinical variables associated with incident tracheostomy and common etiologies of hospitalization among children with CCHS. Hospital discharge records were obtained for children (<21 years) with CCHS hospitalized between 2006 and 2019 from the Kid's Inpatient Database. Primary diagnostic categories for hospitalizations with CCHS were summarized. Multivariable logistic regression models were used to explore risk factors associated with incident tracheostomy. Among 2404 hospitalizations with CCHS, 133 (5.5%) had incident tracheostomy, 1230 (51.2%) had established tracheostomy, and 1041 (43.3%) had no tracheostomy. Compared with children without tracheostomy, those with incident tracheostomy were younger, had a history of prematurity, congenital heart disease, laryngeal, glottic, and subglottic stenosis (LGSS), congenital airway anomalies, neuromuscular weakness, gastroesophageal reflux disease. Children without tracheostomy had higher mortality than those with tracheostomy status (2.19% vs. 0.66%). Multivariable-adjusted analyses showed that incident tracheostomy was associated with infancy (0-1 years), neuromuscular weakness, and congenital heart disease. Most common diagnostic categories include (1) diseases of the respiratory system (30.23%), (2) injury and poisoning (9.35%), and (3) diseases of the nervous system and sense organs (6.71%). Children with CCHS who received incident tracheostomy are more likely to be younger and with LGSS, neuromuscular weakness and congenital heart disease. Clinicians should be aware of these risk factors representing more severe CCHS with earlier manifestation needing tracheostomy. Higher mortality among nontracheostomy group highlights the need for considering tracheostomy in caring for children with CCHS.

Evidence-based management of isolated dentoalveolar fractures: a systematic review.

Dentoalveolar (DA) trauma, which can involve tooth, alveolar bone, and surrounding soft tissues, is a significant dentofacial emergency. In emergency settings, physicians might lack comprehensive knowledge of timely procedures, causing delays for specialist referral. This systematic review assesses the literature on isolated DA fractures, emphasizing intervention timing and splinting techniques and duration in both children and adults. This systematic review adhered to PRISMA guidelines and involved a thorough search across PubMed, Google Scholar, Semantic Scholar, and the Cochrane Library from January 1980 to December 2022. Inclusion and exclusion criteria guided study selection, with data extraction and analysis centered on demographics, etiology, injury site, diagnostics, treatment timelines, and outcomes in pediatric (2-12 years) and adult (>12 years) populations. This review analyzed 26 studies, categorized by age into pediatrics (2-12 years) and adults (>12 years). Falls were a common etiology, primarily affecting the anterior maxilla. Immediate management involved replantation, repositioning, and splinting within 24 hours (pediatric) or 48 hours (adult). Composite resin-bonded splints were common. Endodontic treatment was done within a timeframe of 3 days to 12 weeks for children and 2-12 weeks for adults. Tailored management based on patient age, tooth development stage, time elapsed, and resource availability is essential.

Association of Simple Febrile Seizure with Iron Deficiency Anemia in Children: A Case Control Study

Abstract: Background: Febrile seizure is an established entity in Pediatrics which characterizes with absence of any intracranial infection or metabolic disorders. Simple febrile seizure carries a favorable prognosis without any sequelae. Still, it emerges as the most common etiology of seizure till the age of five years. Iron deficiency anemia is a commonly witnessed micro-nutrient deficiency with a worldwide distribution. Objective: To establish relation of simple febrile seizure with iron deficiency anemia in paediatric population. Materials and Methods: Case-control study, conducted in Pediatric Medicine Department, King Fahad Armed Forces Hospital Southern Region, Khamis Mushayat, Kingdom of Saudi Arabia, from1st January 2022 to 30th June 2023. The 102 children, having age six months to five years, with a diagnosis of first simple febrile seizure were assessed. Likewise, the control group included 102 febrile children without convulsion. The hematological parameters evaluated for diagnosis of iron deficiency anemia included hemoglobin, mean corpuscular volume, serum ferritin, serum iron, total iron binding capacity &amp; red cell distribution width. Result: The mean age for first simple febrile seizure was 23 months. Acute respiratory infection was the most common etiology (80%). Iron deficiency anemia was identified in 17% of cases of simple febrile seizure, in contrary to 6% of cases with febrile illness without seizure, with odds ratio of 3.2. Conclusion: This study demonstrated that the children with iron deficiency anemia are at significantly higher risk of having febrile convulsions compare to control group with fever but without anemia. Keywords: Fever, Febrile seizure, Iron Deficiency anemia, Serum ferritin, Hemoglobin, Convulsion, Mean corpuscular hemoglobin.

Patient Falls in the Operating Room: Why Is This Still a Problem in 2024?

Abstract Despite advances in patient safety, perioperative patient falls continue to be a persistent and preventable harm. Patient falls in procedural areas have been associated with multiple postoperative complications such as additional falls, functional decline, and hospital readmissions. Although fall-related databases exist, the specific number of periprocedural falls is difficult to ascertain, and the causes of such falls also remain elusive. We explore various solutions and recommend the creation of a national, focused database of periprocedural falls that will allow institutions to track numbers of falls in patients receiving anesthetic care and to identify the most common etiologies to enable the implementation of targeted strategies to prevent falls. Lacking this, we suggest specific screening and procedural recommendations during all phases of anesthetic care to increase providers’ awareness and vigilance surrounding patient falls.

The Effect of Lumbopelvic Manipulation for Pain Reduction in Patellofemoral Pain Syndrome: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Patellofemoral pain syndrome (PFPS) is one of the most common etiologies of knee pain and might be relieved with lumbopelvic manipulation (LPM). This meta-analysis aimed to investigate the effects of LPM on pain reduction in patients with PFPS. Electronic databases were searched from inception to December 2023 for randomized controlled trials (RCTs) investigating the effects of LPM on PFPS. The primary outcome was the change in visual analog or numeric rating scale scores assessing pain. Ten studies comprising 346 participants were included. Significant pain reduction was noted in the LPM group (Hedges' g = -0.706, 95% confidence interval [CI] = -1.197 to -0.214, p = 0.005, I2 = 79.624%) compared with the control group. Moreover, pain relief was more pronounced when LPM was combined with other physical therapies (Hedges' g = -0.701, 95% CI = -1.386 to -0.017, p = 0.045, I2 = 73.537%). No adverse events were reported during the LPM. The LPM appears to be a safe and effective adjuvant therapy for pain reduction in patients with PFPS. Clinicians should consider adding LPM to other physical therapies (e.g., quadriceps muscle strengthening) during the management of these patients.

Using T2-weighted magnetic resonance imaging-derived radiomics to classify cervical lymphadenopathy in children

BackgroundCervical lymphadenopathy is common in children and has diverse causes varying from benign to malignant, their similar manifestations making differential diagnosis difficult.ObjectiveThis study aimed to investigate whether radiomic models using conventional magnetic resonance imaging (MRI) could classify pediatric cervical lymphadenopathy.MethodsA total of 419 cervical lymph nodes from 146 patients, and encompassing four common etiologies (Kikuchi disease, reactive hyperplasia, suppurative lymphadenitis and malignancy), were randomly divided into training and testing sets in a ratio of 7:3. For each lymph node, 1,218 features were extracted from T2-weighted images. Then, the least absolute shrinkage and selection operator (LASSO) models were used to select the most relevant ones. Two models were built using a support vector machine classifier, one was to classify benign and malignant lymph nodes and the other further distinguished four different diseases. The performance was assessed by receiver operating characteristic curves and decision curve analysis.ResultsBy LASSO, 20 features were selected to construct a model to distinguish benign and malignant lymph nodes, which achieved an area under the curve (AUC) of 0.89 and 0.80 in the training and testing sets, respectively. Sixteen features were selected to construct a model to distinguish four different cervical lymphadenopathies. For each etiology, Kikuchi disease, reactive hyperplasia, suppurative lymphadenitis, and malignancy, an AUC of 0.97, 0.91, 0.88, and 0.87 was achieved in the training set, and an AUC of 0.96, 0.80, 0.82, and 0.82 was achieved in the testing set, respectively.ConclusionMRI-derived radiomic analysis provides a promising non-invasive approach for distinguishing causes of cervical lymphadenopathy in children.Graphical

Prevalence of limbal stem cell deficiency at an academic referral center over a two-year period.

To evaluate the prevalence and clinical characteristics of limbal stem cell deficiency (LSCD) in the setting of a tertiary referral cornea practice at an academic center. A retrospective chart review was performed to identify all unique medical record numbers (MRNs) presenting to a single cornea specialist (JHH) at the University of Minnesota during calendar years 2019 and 2020. Records were queried and confirmed for a diagnosis of LSCD. Clinical characteristics of identified patients, including demographics, etiology of LSCD, severity of LSCD, treatment, and best corrected visual acuity (BCVA) at final follow-up, were documented. In total 1436 unique MRNs were identified over the study period. There were 61 individuals (91 eyes) diagnosed with LSCD, resulting in a prevalence of 4.25% (95% CI, 3.33-5.42). Of 91 eyes, 60 eyes were bilateral (65.9%). Among all eyes, ocular surface burns were the most common etiology (18.7%) followed by iatrogenic or medicamentosa (15.4%). There were 51 eyes (56.0%) that underwent some form of transplantation. The median BCVA at final follow-up was Snellen 20/80 (range 20/20 to no light perception). The prevalence of LSCD found at a cornea subspecialty tertiary referral center in our study was much higher than previously reported prevalence rates. This may reflect referral bias and potential underdiagnosis of LSCD in practices outside of subspecialty referral centers. The high prevalence rate in our study also suggests that LSCD patients are concentrated in subspecialty referral practices, with many having high morbidity disease. This constitutes a major health burden for these practices.

Psychodermatology of Chronic Pruritus: An Overview of the Link Between Itch and Distress.

Chronic pruritus (CP) is defined as an unpleasant sensation causing a desire to scratch and lasting > 6 weeks. It has a multifactorial etiology but is more frequently associated with chronic inflammatory dermatoses and systemic disorders. Psychogenic pruritus and neurological disorders are other less common etiologies, while, in some patients, it is idiopathic. CP appears to be processed by non-histaminergic pathway, contributing to its complexity and therapeutic challenge. Moreover, regardless of the etiology, it is multidimensional, including cognitive, motivational and affective components. There is a close link between psychological distress and pruritus, with particular clinical expression in chronic inflammatory dermatoses, involving the activation of the hypothalamic-pituitary-adrenal axis (and its cutaneous equivalent), the sympathetic nervous system, the release of hormones and peptides, the role of immune cells(T and B cells, macrophages) and immune-related cells in the skin (mast cells, dendritic cells and keratinocytes). Moreover, there is strong evidence that psychological factors influence the experience of pruritus. CP can also cause psychiatric disorders, including but not limited to anxiety and depression, and also lead to significant quality of life (QoL) impairment. Thereby, although a psychodermatological assessment should ideally be carried out in the context of a specific psychodermatology consultation, a brief mental health assessment could be part of the general dermatological approach to these patients. Considering that mental health, QoL and pruritus are closely linked, psychotherapeutic interventions and/or psychotropic drugs should thus be considered in some patients as an adjunct to the pharmacological treatment of CP.

Endoscopic Drainage of Pancreatic Pseudocysts: Clinical Profile and Outcome Analysis.

Pancreatic pseudocyst is a complication of acute and chronic pancreatitis. Although surgery considered the gold standard, there is a rapid shift towards endoscopic treatment owing to its therapeutic outcome and minimal invasive involvement. This study aims to present the clinical profile and outcome analysis of the endoscopic drainage of pancreatic pseudocysts in Dhulikhel Hospital. This is a retrospective review of all patients who were diagnosed with pancreatic pseudocyst between January 2015 and December 2018 in Dhulikhel Hospital. The retrospective data were on patient characteristics, etiology, location of the cyst, other clinical characteristics. The study included 51 patients and the average age of the patients in this study was 39 years and among them 62.7% were female. The mean size of pseudocyst was 7.89 cm, and the average days of hospital stay was 13.64. The most common etiology was idiopathic and more than half of the patient's cyst was in head and/or body, 15 and 36 underwent conservative and therapeutic management respectively. The technical success rate was at 94% and reported increased pancreatic pseudocyst in Dhulikhel Hospital from 2015-18. The study findings highlight the increased trend of pancreatitis pseudocyst as a complication of acute or chronic pancreatitis. Endoscopic drainage of pseudocyst with plastic stent is an established method of managing it. However, pancreatic pseudocyst even larger than 6 cm can undergo spontaneous resolution.Hence, conservative management should be considered first.

Characteristics, Etiologies, and Outcomes of Peripheral Ulcerative Keratitis in a Tertiary Referral Hospital in Thailand: A 10-Year Study

ABSTRACT Purpose To evaluate characteristics, etiologies, and outcomes of peripheral ulcerative keratitis (PUK) in Thailand. Methods Retrospective study Results Forty-three eyes from 34 patients were enrolled, with a mean age of 53.44 ± 15.48 years. PUK affected women more than men (1.6:1) and resulted in unilateral lesions more frequently than bilateral lesions (2.8:1). Redness (56.3%) was the most common presenting symptom followed by pain (43.8%) and irritation (40.6%). The three most common etiologies were Mooren’s ulcer (52.9%), rheumatoid arthritis (20.6%), and Graves’ disease (8.8%). Corneal thinning was significantly more common in unilaterality (p = 0.004) and less common when the lesion was located in the superior cornea (p = 0.031). Surgery was also more frequently performed in case of unilateral PUK (p = 0.026). Perforation was observed in 5 eyes (11.6%) and recurrence after treatment was identified in 8 eyes (18.6%). Conclusion Nearly half of PUK cases are associated with several systemic causes. Accordingly, careful physical examination and investigation are important. Unilateral lesions could serve as potential risk factors in identifying patients at risk of thinning and perforation, which could prevent further damage to the eye and vision loss.

Analysis of epidemiological and clinical aspects in cases of fungal osteomyelitis caused by non-Candida species.

Osteomyelitis caused by non-Candida species is rare and often neglected, and current recommendations are based on primarily clinical experience and expert opinion. The objective of this study was to describe a case series of non-Candida fungal osteomyelitis. This retrospective study included 10 patients with non-Candida fungal osteomyelitis. Patients with osteomyelitis and microbiologically confirmed non-Candida species from bone fragment cultures were selected from the institution Infection Control Board database. Fusarium spp. were the most commonly isolated fungus from bone fragment cultures in five patients (50%). The majority did not present immunosuppression. The most common etiology was post-traumatic (n = 7, 70%), particularly open fractures. All patients were treated with antifungals associated with surgery. The antifungals used were itraconazole in five patients (50%), and voriconazole in another five patients (50%), with a median duration of antifungal therapy of four weeks (range: 3-25). There were no observed deaths within 30 days and one year. An antifungal approach combined with surgical treatment demonstrated favorable clinical outcomes, including low mortality rates and effective remission.

Approach to the Patient With Suspected Silver-Russell Syndrome.

Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of ≥ 4/6 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. A score of ≥ 4/6 NH-CSS (or ≥ 3/6 with strong clinical suspicion) warrants (epi)genetic confirmation, identifiable in ∼60% patients. The approach to the investigation and diagnosis of SRS is detailed in the only international consensus guidance, published in 2016. In the intervening years, the clinical, biochemical, and (epi)genetic characteristics of SRS have rapidly expanded, largely attributable to advancing molecular genetic techniques and a greater awareness of related disorders. The most common etiologies of SRS remain loss of methylation of chromosome 11p15 (11p15LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Rarer causes of SRS include monogenic pathogenic variants in imprinted (CDKN1C and IGF2) and non-imprinted (PLAG1 and HMGA2) genes. Although the age-specific NH-CSS can identify more common molecular causes of SRS, its use in identifying monogenic causes is unclear. Preliminary data suggest that NH-CSS is poor at identifying many of these cases. Additionally, there has been increased recognition of conditions with phenotypes overlapping with SRS that may fulfill NH-CSS criteria but have distinct genetic etiologies and disease trajectories. This group of conditions is frequently overlooked and under-investigated, leading to no or delayed diagnosis. Like SRS, these conditions are multisystemic disorders requiring multidisciplinary care and tailored management strategies. Early identification is crucial to improve outcomes and reduce the major burden of the diagnostic odyssey for patients and families. This article aims to enable clinicians to identify key features of rarer causes of SRS and conditions with overlapping phenotypes, show a logical approach to the molecular investigation, and highlight the differences in clinical management strategies.

Efficacy of Inhaled Corticosteroids in Patients with Bronchiectasis without Airway Hyperresponsiveness: A Pilot Study

ABSTRACT Background: The effect of inhaled corticosteroids (ICS) in stable cases of bronchiectasis without hyperresponsiveness has not been studied. The objective of the study was to assess the effect of inhaled fluticasone 500 μg twice daily on health-related quality of life (HRQoL), pulmonary function, and frequency of exacerbations in stable patients of bronchiectasis without bronchial hyperresponsiveness (BHR) diagnosed by indirect bronchoprovocation test. Materials and Methods: It was a pilot study with an open-label randomized control design conducted in a Tertiary Care Chest Hospital, with 40 patients in each arm. Bronchiectasis was diagnosed by high-resolution computed tomography chest. Patients with BHR were excluded by performing an indirect bronchoprovocation test using inhaled adenosine monophosphate. Eighty patients meeting the inclusion criteria were randomized into intervention group (IG) receiving 500 μg fluticasone propionate twice a day and control group (CG) receiving standard care without ICS. Both groups were assessed monthly till 6 months. Clinical data (mainly forced expiratory volume in 1st s [FEV1], number of exacerbations, HRQoL by St. George respiratory questionnaire (SGRQ) was collected at baseline and end of 6 months. Results: Eighty (IG - 40, CG - 40) patients of stable state noncystic fibrosis bronchiectasis completed the study. The mean age in our study was IG 49.7 ± 17.6 vs. CG 49.9 ± 16.6, males IG 62.5% vs. CG 60%, most common etiology was tuberculosis IG 40% (16/40) vs CG 37.5% (15/40). Difference in SGRQ score (baseline end of treatment) IG 5.47 vs. CG 1.65 (p = 0.00). Difference in FEV1 IG 0.054L vs. CG 0.004L (P = 0.00), mean number of exacerbations at end of treatment IG – 1 ± 0.9 vs. CG 1.2 ± 1.1. Conclusion: Patients with stable bronchiectasis without BHR, treated with inhaled fluticasone 500 μg twice daily for 6 months showed a clinically significant improvement in HRQoL. No statistically significant difference was seen in pulmonary function and frequency of exacerbations.

Imaging-Guided Percutaneous Endovascular Biopsy Applied in Patients with Pulmonary Artery Masses: A Review.

Pulmonary artery (PA) masses are rare. Distinguishing PA tumours from embolism is sometimes difficult, and surgical biopsy is expensive and risky. We aimed to evaluate the efficacy of imaging-guided percutaneous endovascular biopsy (PEB) for obtaining tissues for histological diagnosis. We searched Cochrane, Medline, Embase, and Web of Science for PEB trials involving patients with PA masses, published from the inception of the database until August 2023. We retrospectively reviewed 33 studies including 87 patients (median age 55 ± 69.3years, 44 men) with PA masses who underwent a total of 110 PEBs. Of these patients, 34.5% (n = 38) underwent PEB-catheter aspiration (PEB-CA), 50.9% (n = 56) underwent PEB-forceps biopsy (PEB-FB) and 2.7% (n = 3) underwent PEB-directional atherectomy (PEB-DA). The most common histological aetiology of PA masses was mesenchymal tumours (n = 67, 75.9%). Tumour embolism (n = 6, 6.9%) and pulmonary embolism (n = 3, 3.4%) were the second and third most common types of PA masses, respectively. The technical success rates of PEB-CA, PEB-FB and PEB-DA were 92.1%, 94.6% and 100% (p = 0.796), respectively. Histopathological analysis provided clinical diagnostic success rates of 44.7%, 85.7% and 100% for PEB-CA, PEB-FB and PEB-DA (p < 0.001), respectively. In pairwise comparison, PEB-FB had a higher success rate in pathological diagnosis than PEB-CA (p = 0.000). Apart from one patient suffering from haemorrhagic cardiac tamponade, no other complications occurred. Imaging-guided PEB is a safe and effective technique for the early pathological diagnosis of PA masses.