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Frontiers in Nephrology 2024Congenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by edema, massive proteinuria, and hypoalbuminemia that manifests or within three months...
BACKGROUND
Congenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by edema, massive proteinuria, and hypoalbuminemia that manifests or within three months after birth. CNS affects 1-3 per 100,000 children, primarily associated with genetic variants and occasionally with infections. Genetic analysis is the first-line method for diagnosis. The most common founder variants have been identified in European populations, often resulting in end-stage kidney disease by 1-2 years of age.
CASE-DIAGNOSIS/TREATMENT
A female full-term neonate, without prenatal signs of kidney disease, was admitted to Rapa Nui (Eastern Island) Hospital at the age of 2 months due to bronchial obstruction. She presented fever, oliguria, edema, urine protein-to-creatinine ratio (UPCR) 433.33, and hypoalbuminemia (0.9 g/dL). She was transferred to a mainland Chilean hospital following CNS diagnosis. Viral screening detected cytomegalovirus (CMV) positivity in both blood and urine. A kidney biopsy revealed interstitial nephritis and diffuse podocyte damage and the tissue PCR resulted negative for CMV. Interviews with the parents revealed consanguinity, suggestive of hereditary CNS. Genetic analysis identified the Maori founder variant, c.2131C>A (p.R711S), in homozygosis. The patient received albumin infusions and antiviral therapy, being discharged when she was 5 months old, with improved laboratory parameters evidenced by UPCR 28.55, albumin 2.5 g/dL, and cholesterol 190 mg/dL. Subsequent clinical monitoring was conducted through virtual and in-person consultations. At her last follow-up at 4 years 2 months old, she presented UPCR 16.1, albumin 3.3 g/dl and cholesterol 220 mg/dL, maintaining normal kidney function and adequate growth.
CONCLUSIONS
To our knowledge, this represents the first case of CNS in Chile carrying a variant associated with prolonged kidney survival. As described in the Maori population, the patient exhibited a less severe clinical course compared to classical patients. Genetic testing for the Maori founder variant in CNS patients related to the New Zealand population, could impact management decisions and potentially prevent the need for nephrectomies.
PubMed: 38808020
DOI: 10.3389/fneph.2024.1379061 -
Therapeutic Advances in Respiratory... 2024Bronchial thermoplasty (BT) is a recently developed non-pharmacological therapy for refractory bronchial asthma. Although increasing evidence has suggested that BT is... (Observational Study)
Observational Study
BACKGROUND
Bronchial thermoplasty (BT) is a recently developed non-pharmacological therapy for refractory bronchial asthma. Although increasing evidence has suggested that BT is effective for various phenotypes of severe asthma, its safety and efficacy in patients with severe irreversible impaired lung function are unclear.
OBJECTIVES
To assess the efficacy and safety of BT in patients with refractory asthma, including patients with a severely impaired forced expiratory volume in 1 second (FEV1).
DESIGN
This was a single-center, retrospective, observational cohort study.
METHODS
We retrospectively reviewed the medical records of 15 patients with refractory asthma (Global Initiative for Asthma step 4 or 5), including patients with severely impaired airflow limitation (% predicted pre-bronchodilator FEV1 <60%), who had undergone BT between June 2016 and January 2022. We analyzed the efficacy (change in asthma symptoms, exacerbation rate, pulmonary function, asthma medication, and serum inflammatory chemokine/cytokines before and after BT) and complications in all patients. We compared these data between patients with severe obstructive lung dysfunction [group 1(G1)] and patients with FEV1 ⩾ 60% [group 2 (G2)].
RESULTS
Six patients were in G1 and nine were in G2. Clinical characteristics, T2 inflammation, and concurrent treatment were equivalent in both groups. BT significantly improved asthma-related symptoms (measured using the Asthma Control Test and Asthma Quality of Life Questionnaire scores) in both groups. FEV1 was significantly improved in G1 but not in G2. Four patients in G2, but none in G1, experienced asthma exacerbation requiring additional systemic corticosteroids (including two requiring prolonged hospitalization) after BT. Long-term responders (patients who reduced systemic or inhaled corticosteroid without newly adding biologics in a follow-up > 2 years) of BT were identified in G1 and G2 ( = 2, 33.3% and = 4, 44.4%, respectively).
CONCLUSION
BT in patients with refractory asthma and severe airflow limitation is equally safe and efficacious as that in patients with moderate airflow limitation.
Topics: Humans; Male; Retrospective Studies; Female; Bronchial Thermoplasty; Asthma; Middle Aged; Forced Expiratory Volume; Treatment Outcome; Aged; Severity of Illness Index; Lung; Adult; Recovery of Function; Time Factors; Quality of Life
PubMed: 38804685
DOI: 10.1177/17534666241254980 -
Medicina Oral, Patologia Oral Y Cirugia... May 2024Patients at high risk for obstructive sleep apnea (OSA) are characterized by intermittent transient hypoxias and upper respiratory tract collapse, with reactive oxygen...
BACKGROUND
Patients at high risk for obstructive sleep apnea (OSA) are characterized by intermittent transient hypoxias and upper respiratory tract collapse, with reactive oxygen production and oxidative imbalance which causes an inflammatory cascade. This can generate negative effects on the periodontium, causing severe tooth attachment loss. This study aimed to determine the association between periodontitis and the risk of OSA in adults who attend outpatient otolaryngology consultations.
MATERIAL AND METHODS
A cross-sectional observational study was carried out with 118 patients seen in the otolaryngology service of the Hospital Victor Lazarte Echegaray-ESSALUD in Trujillo (Peru), between September and October 2023. The presence and severity of periodontitis were determined using the Page and Eke criteria, and the presence and severity of OSA risk were determined using the STOP-BANG questionnaire. The results were analyzed using Chi-square, Spearman correlation and logistic regression tests, considering a significance level of p<0.05.
RESULTS
An association was found between periodontitis and risk of OSA (p=0.000), obtaining a positive relationship with rs=0.527. In addition, there was an association between periodontitis and DM2 (p=0.028) and bronchial asthma (0.017). No association was found between periodontitis and sex (0.503) or age (0.741).
CONCLUSIONS
There is an association between periodontitis and the risk of OSA in Peruvian adult patients who attended outpatient otolaryngology consultations. This association was also found according to age, sex, smoking, DM2 and asthma. In addition, an association was found between periodontitis and DM2 and asthma, but not with sex and age.
PubMed: 38794941
DOI: 10.4317/medoral.26561 -
Diagnostics (Basel, Switzerland) May 2024: To assess the diagnostic performance of contrast-enhanced ultrasound (CEUS) alongside contrast-enhanced computed tomography (CECT) in evaluating central lung cancer...
: To assess the diagnostic performance of contrast-enhanced ultrasound (CEUS) alongside contrast-enhanced computed tomography (CECT) in evaluating central lung cancer (CLC). : From 2006 to 2022, 54 patients with CLC and obstructive atelectasis (OAT) underwent standardized examinations using CEUS in addition to CECT. The ability to differentiate CLC from atelectatic tissue in CECT and CEUS was categorized as distinguishable or indistinguishable. In CEUS, in distinguishable cases, the order of enhancement (time to enhancement) (OE; categorized as either an early pulmonary arterial [PA] pattern or a delayed bronchial arterial [BA] pattern of enhancement), the extent of enhancement (EE; marked or reduced), the homogeneity of enhancement (HE; homogeneous or inhomogeneous), and the decrease in enhancement (DE; rapid washout [<120 s] or late washout [≥120 s]) were evaluated. : The additional use of CEUS improved the diagnostic capability of CECT from 75.9% to 92.6% in differentiating a CLC from atelectatic tissue. The majority of CLC cases exhibited a BA pattern of enhancement (89.6%), an isoechoic reduced enhancement (91.7%), and a homogeneous enhancement (91.7%). Rapid DE was observed in 79.2% of cases. : In cases of suspected CLC with obstructive atelectasis, the application of CEUS can be helpful in differentiating tumor from atelectatic tissue and in evaluating CLC.
PubMed: 38786349
DOI: 10.3390/diagnostics14101051 -
Biomolecules May 2024Bronchial asthma is characterized by airway inflammation, airway hyperresponsiveness, and reversible airway obstruction. Eosinophils contribute to the pathogenesis of... (Review)
Review
Bronchial asthma is characterized by airway inflammation, airway hyperresponsiveness, and reversible airway obstruction. Eosinophils contribute to the pathogenesis of airway disease mainly by releasing eosinophil-specific granules, lipid mediators, superoxide anions, and their DNA. Type-2 cytokines such as interleukin (IL)-4 and IL-13 also play roles in the development of bronchial asthma. Among these cytokines, IL-4 is involved in T-cell differentiation, B-cell activation, B-cell differentiation into plasma cells, and the production of immunoglobulin E. Although IL-13 has similar effects to IL-4, IL-13 mainly affects structural cells, such as epithelial cells, smooth muscle cells, and fibroblasts. IL-13 induces the differentiation of goblet cells that produce mucus and induces the airway remodeling, including smooth muscle hypertrophy. IL-4 and IL-13 do not directly activate the effector functions of eosinophils; however, they can induce eosinophilic airway inflammation by upregulating the expression of vascular cell adhesion molecule-1 (for adhesion) and CC chemokine receptor 3 ligands (for migration). Dupilumab, a human anti-IL-4 receptor α monoclonal antibody that inhibits IL-4 and IL-13 signaling, decreases asthma exacerbations and mucus plugs and increases lung function in moderate to severe asthma. In addition, dupilumab is effective for chronic rhinosinusitis with nasal polyps and for atopic dermatitis, and IL-4/IL-13 blocking is expected to suppress allergen sensitization, including transcutaneous sensitization and atopic march.
Topics: Humans; Asthma; Eosinophils; Interleukin-13; Interleukin-4; Antibodies, Monoclonal, Humanized; Animals
PubMed: 38785953
DOI: 10.3390/biom14050546 -
Therapeutic Advances in Respiratory... 2024The two patients included in the study had mixed and refractory post-tuberculosis tracheobronchial stenosis (PTTS), having experienced unsuccessful interventional... (Review)
Review
The two patients included in the study had mixed and refractory post-tuberculosis tracheobronchial stenosis (PTTS), having experienced unsuccessful interventional therapies such as balloon dilation and V-shaped stent placement before the operation. Following the secure placement of L-shaped silicone stents, examinations with a fiberbronchoscope during the first and third months post-operation revealed a significant reduction in bronchial mucosa inflammation for both patients. Additionally, the opening diameter of the upper and lower branch segments increased, and chest CT scans indicated a noticeable absorption of left pulmonary lesions. Three months post-operation, fiberbronchoscopy confirmed the stable fixation of the stent without any movement. The patients exhibited substantial improvements in pulmonary function, dyspnea index, and blood gas analysis, with no reported adverse complications. After 7 months, a follow-up fiberbronchoscope for one case revealed excellent stent fixation. Simultaneously, the chest CT scan indicated favorable re-expansion. The placement of L-shaped silicone stents proves effective in preventing displacement, alleviating airway stenosis or obstruction, and ensuring the safety and efficacy of PTTS treatment - particularly in cases where V-shaped silicone stent placement has failed. To our knowledge, this is the first study describing the L-shaped silicone stent in two patients with PTTS.
Topics: Humans; Stents; Silicones; Bronchial Diseases; Tracheal Stenosis; Bronchoscopy; Male; Constriction, Pathologic; Female; Treatment Outcome; Adult; Middle Aged; Prosthesis Design; Tuberculosis, Pulmonary; Tomography, X-Ray Computed
PubMed: 38785036
DOI: 10.1177/17534666241254901 -
Cureus Apr 2024Chronic obstructive pulmonary disease (COPD) and bronchial asthma pose significant threats and challenges to global health care, emphasizing the need for precise inhaler...
Prevalence and Factors Affecting the Optimal and Non-optimal Peak Inspiratory Flow Rate in Stable and Exacerbation Phases of Chronic Obstructive Pulmonary Disease and Bronchial Asthma in India.
INTRODUCTION
Chronic obstructive pulmonary disease (COPD) and bronchial asthma pose significant threats and challenges to global health care, emphasizing the need for precise inhaler therapies to overcome this burden. The optimal peak inspiratory flow rate (PIFR) is a crucial determinant for the right selection and effective use of an inhaler device. It also helps to improve the treatment effectiveness of obstructive airway diseases worldwide as it allows effective drug delivery to distal airways and lung parenchyma. It is used as a selection criterion by physicians around the world for selecting personalized inhaler devices.
OBJECTIVE
To find out the optimal and non-optimal PIFR prevalence and its influencing factors in stable and exacerbation phases of COPD and bronchial asthma in Tamil Nadu, India.
METHODOLOGY
It is a single-center, observational, cross-sectional study conducted from February 2022 to August 2023. The patients who meet the diagnostic criteria specified by the Global Initiative for Chronic Obstructive Lung Disease (GOLD) guidelines for COPD and the Global Initiative for Asthma (GINA) guidelines for bronchial asthma are enrolled in our study. The PIFR was measured using a hand-held digital spirometry device, along with demographic data collection. Statistical analyses, including t-tests and chi-square tests, were performed using SPSS version 21 (IBM Corp., Armonk, NY).
RESULTS
Gender, height, and disease severity significantly impacted the PIFR. Females, normal BMI individuals, and those with moderate disease severity exhibited higher optimal PIFR rates. Stable or exacerbation phases, disease, and smoking status do not influence either optimal or non-optimal PIFR. Notably, substantial differences in lung function parameters were observed between optimal (60-90 L/min) and non-optimal PIFR (insufficient: <30 L/min, suboptimal: 30-60 L/min, excessive: >90 L/min) groups, highlighting their impact on respiratory health.
CONCLUSION
This study emphasizes the importance of personalized inhaler strategies, considering gender, height, and disease severity. Proper inhaler device selection, continuous monitoring of inhaler technique, and tailored inhaler education at every OPD visit are vital for optimizing effective COPD and bronchial asthma management and improving adherence to treatment.
PubMed: 38774171
DOI: 10.7759/cureus.58670 -
BMC Pulmonary Medicine May 2024High blood eosinophils seem to predict exacerbations and response to inhaled corticosteroids (ICS) treatment in patients with chronic obstructive pulmonary disease...
BACKGROUND
High blood eosinophils seem to predict exacerbations and response to inhaled corticosteroids (ICS) treatment in patients with chronic obstructive pulmonary disease (COPD). The aim of our study was to prospectively evaluate for 2 years, blood and sputum eosinophils in COPD patients treated with bronchodilators only at recruitment.
METHODS
COPD patients in stable condition treated with bronchodilators only underwent monitoring of lung function, blood and sputum eosinophils, exacerbations and comorbidities every 6 months for 2 years. ICS was added during follow-up when symptoms worsened.
RESULTS
63 COPD patients were enrolled: 53 were followed for 1 year, 41 for 2 years, 10 dropped-out. After 2 years, ICS was added in 12/41 patients (29%) without any statistically significant difference at time points considered. Blood and sputum eosinophils did not change during follow-up. Only FEV/FVC at T0 was predictive of ICS addition during the 2 year-follow-up (OR:0.91; 95% CI: 0.83-0.99, p = 0.03). ICS addition did not impact on delta (T24-T0) FEV, blood and sputum eosinophils and exacerbations. After 2 years, patients who received ICS had higher blood eosinophils than those in bronchodilator therapy (p = 0.042). Patients with history of ischemic heart disease increased blood eosinophils after 2 years [p = 0.03 for both percentage and counts].
CONCLUSIONS
Blood and sputum eosinophils remained stable during the 2 year follow-up and were not associated with worsened symptoms or exacerbations. Almost 30% of mild/moderate COPD patients in bronchodilator therapy at enrollment, received ICS for worsened symptoms in a 2 year-follow-up and only FEV/FVC at T0 seems to predict this addition. History of ischemic heart disease seems to be associated with a progressive increase of blood eosinophils.
Topics: Humans; Pulmonary Disease, Chronic Obstructive; Male; Female; Aged; Sputum; Middle Aged; Eosinophils; Follow-Up Studies; Bronchodilator Agents; Prospective Studies; Forced Expiratory Volume; Adrenal Cortex Hormones; Administration, Inhalation; Leukocyte Count; Disease Progression; Eosinophilia; Inflammation
PubMed: 38764008
DOI: 10.1186/s12890-024-03062-1 -
Allergologie Select 2024None.
None.
PubMed: 38756207
DOI: 10.5414/ALX02444E -
Molecular Genetics and Metabolism... Jun 2024Introduction Cobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic...
Introduction Cobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all patients with cblC have various structural heart defects. Severe congestive heart failure (HF) may also occur and its prognosis is poorly documented. Case report We present the case of a young man who had been diagnosed with cblC due to C331T mutation in the MMACHC gene at the age of 3 days and had been treated with substitution therapy (OH-Cbl, mecobalamine, carnitine, betaine, and calcium folinate) since then. He had mildly impaired cognitive function; an ectopic hypophysis/pituitary insufficiency, with adequate hormone replacement therapy; obstructive sleep apnea syndrome, treated with CPAP, bronchial asthma, and obesity (BMI of 30). The liver and kidney functions were normal. He developed severe dilated cardiomyopathy and HF at the age of 12y. With medical treatment, his condition improved and he was stable (NYHA class II) for several years. Six years later, his status deteriorated rapidly, as he developed advanced HF, INTERMACS 3. The cardiac ultrasound revealed dilated ventricles with severely depressed ejection fraction (EF), increased filling pressures, and pulmonary hypertension (sPAP 60 mmHg). Cardiac MRI showed extremely dilated chambers (LVedv 609 mL, RVedv 398 mL) with pronounced non-compaction, and a left ventricle EF of 13%. A primary prophylactic ICD and a left ventricular assist device (LVAD/HM3) were implanted, and the patient was subsequently listed for heart transplantation (HTx). After 25 months on the waiting list, he underwent an uncomplicated HTx. However postoperatively, he got two episodes of cardiac tamponade, as well as mediastinitis, treated with antibiotics and vaccum assisted closure. He developed severe kidney failure, which fully recovered after two months, and was treated successfully for an early moderate allograft rejection (ISHT 2). At the latest outward visit, twelve months after HTx, the patient was doing excellent. Summary To the best of our knowledge, this is the first ever reported case of a patient with CblC undergoing an LVAD implantation and subsequently a HTx. Although both interventions were complicated with bleeding events, this seems to be a treatment option for advanced HF in patients with CblC.
PubMed: 38745823
DOI: 10.1016/j.ymgmr.2024.101089