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Pediatric Rheumatology Online Journal Jan 2024Germline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease known as activated phosphoinositide 3-kinase...
BACKGROUND
Germline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease known as activated phosphoinositide 3-kinase (PI3K) δ syndrome type 1(APDS1). Affected patients present a spectrum of clinical manifestations, particularly recurrent respiratory infections and lymphoproliferation, increased levels of serum immunoglobulin (Ig) M, Epstein-Barr virus (EBV) and cytomegalovirus (CMV) viremia. Due to highly heterogeneous phenotypes of APDS1, it is very likely that suspected cases may be misdiagnosed.
METHODS
Herein we reported three patients with different clinical presentations but harboring pathogenic variants in PIK3CD gene detected by trio whole-exome sequencing (trio-WES) and confirmed by subsequent Sanger sequencing.
RESULTS
Two heterozygous mutations (c.3061G > A, p.E1021K and c.1574 A > G, p.E525G) in PIK3CD (NM_005026.3) were identified by whole exome sequencing (WES) in the three patients. One of two patients with the mutation (c.3061G > A) presented with abdominal pain and diarrhea as the first symptoms, which was due to intussusception caused by multiple polyps of colon. The patient with mutation (c.1574 A > G) had an anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV)-like clinical manifestations, including multisystemic inflammation, acute nephritic syndrome, and positive perinuclear ANCA (p-ANCA), thus the diagnosis of ANCA-AAV was considered.
CONCLUSIONS
Our study expands the spectrums of clinical phenotype and genotype of APDS, and demonstrates that WES has a high molecular diagnostic yield for patients with immunodeficiency related symptoms, such as respiratory infections, multiple ecchymosis, ANCA-associated vasculitis, multiple ileocecal polyps, hepatosplenomegaly, and lymphoid hyperplasia.
TRIAL REGISTRATION
Retrospectively registered.
Topics: Humans; Phosphatidylinositol 3-Kinase; Phosphatidylinositol 3-Kinases; Epstein-Barr Virus Infections; Antibodies, Antineutrophil Cytoplasmic; Herpesvirus 4, Human; Class I Phosphatidylinositol 3-Kinases; Phenotype; Mutation; Respiratory Tract Infections
PubMed: 38287413
DOI: 10.1186/s12969-024-00955-7 -
International Wound Journal Jan 2024This meta-analysis evaluates the impact of topical ketorolac on surgical site wound healing and scar formation after cataract surgery. A thorough literature search,... (Meta-Analysis)
Meta-Analysis
This meta-analysis evaluates the impact of topical ketorolac on surgical site wound healing and scar formation after cataract surgery. A thorough literature search, adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, identified eight relevant studies from 2348 articles. The selected studies were analysed for wound healing efficacy, using the redness, edema, ecchymosis, discharge and approximation (REEDA) scale, and scar formation, assessed by the Manchester scar scale (MSS). Results indicated that ketorolac significantly improved wound healing, with lower REEDA scores 1 week post-surgery (I = 97%; Random: standardised mean difference (SMD): -10.93, 95% CI: -13.85 to -8.00, p < 0.01), and reduced scar formation, evidenced by lower MSS scores 3 months post-surgery (I = 74%; Random: SMD: -9.67, 95% CI: -11.03 to -8.30, p < 0.01). The findings suggest that topical ketorolac is beneficial in post-cataract surgery care, enhancing wound healing and reducing scarring.
Topics: Humans; Ketorolac; Cicatrix; Cataract Extraction; Cataract; Wound Healing; Edema
PubMed: 38272819
DOI: 10.1111/iwj.14661 -
Cureus Dec 2023Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections....
Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion. So far, only limited cases of LAD-III have been reported. This case report discusses a two-year-old male infant from the Asir region, Saudi Arabia, who was referred to the pediatric hematology service due to recurrent ecchymosis and epistaxis. He was born at full term with a history of transient tachypnea of the newborn and recurrent bronchiolitis. The patient exhibited normal platelet count and coagulation profiles alongside a familial history of bleeding disorders, including a cousin with a similar condition. The patient also presented with hypospadias and café-au-lait spots. Laboratory findings revealed anemia, microcytosis, and hypochromia indicative of iron deficiency anemia. Whole exome sequencing (WES) identified a homozygous variant of uncertain significance in the gene, associated with autosomal recessive LAD-III. The patient was subsequently referred to an immunology subspecialty for further investigation and bone marrow transplant preparation. This case underscores the importance of comprehensive clinical and genetic evaluations in pediatric patients with unexplained bleeding tendencies.
PubMed: 38269242
DOI: 10.7759/cureus.51062 -
Plastic and Reconstructive Surgery.... Jan 2024We aimed to investigate the effect of compression dressing on edema, ecchymosis, pain, and ocular surface irritation after ptosis surgery.
BACKGROUND
We aimed to investigate the effect of compression dressing on edema, ecchymosis, pain, and ocular surface irritation after ptosis surgery.
METHODS
After ptosis correction [anterior levator reinsertion (and resection) (ALR), if necessary additional blepharoplasty], the eye was randomized for compression dressing or transparent eye shield. Edema and ecchymosis were scored on a four-point rating scale by a blinded observer 1 day (D1), 1 week (D7), and 8 weeks (D56) after surgery; the same was done for scar formation regarding redness and bulging at D7 and D56. Aesthetic outcome was ranked by patient and blinded observer using the Global Aesthetic Improvement Score at D1, D7, and D56. Postoperative pain was scored using a visual analogue scale (0 to 10) at D1. Impairment after surgery by dressing or eye shield was evaluated at D1.
RESULTS
Ecchymosis, edema, scar formation, and aesthetic outcome ranked by the patient and blinded observer did not differ between the groups with compression dressing and eye shield at any day of follow-up ( > 0.05). Postoperative pain and impairment were the same in both groups ( > 0.05). One case of corneal erosion occurred in the group with compression dressing at D1 ( = 0.342). At D7, corneal staining was increased in the group without compression dressing ( = 0.930).
CONCLUSIONS
Compression dressing after ALR does not reduce ecchymosis, edema, or postoperative pain and has no effect on early scar formation or aesthetic results. To prevent corneal erosion caused by the dressing, it can be omitted after ALR without inferiority for the early postoperative results.
PubMed: 38264444
DOI: 10.1097/GOX.0000000000005548 -
Frontiers in Pharmacology 2023venous thromboembolism (VTE) is one of the most common complications after major orthopaedic surgery. Recent studies have suggested that aspirin may also be effective...
Comparison of efficacy and safety between aspirin and oral anticoagulants for venous thromboembolism prophylaxis after major orthopaedic surgery: a meta-analysis of randomized clinical trials.
venous thromboembolism (VTE) is one of the most common complications after major orthopaedic surgery. Recent studies have suggested that aspirin may also be effective in preventing VTE, but it is still controversial whether it can be routinely used. To compare the efficacy and safety of aspirin against oral anticoagulants in the prevention of VTE following total hip arthroplasty (THA), total knee arthroplasty (TKA) or hip fracture surgery (HFS). Relevant publications have been obtained using electronic search databases such as PubMed, Embase, Web of Science, Cochrane Library, and Clinical Trials. gov. from inception to 20 July 2023. Only RCTs evaluating the efficacy and safety of aspirin compared with oral anticoagulants undergoing major orthopaedic surgery were included in the meta-analysis. The primary outcome reported was any VTE event (including deep vein thrombosis (DVT) and pulmonary embolism (PE)). Secondary outcomes included mortality, major bleeding (including gastrointestinal bleed, cerebrovascular hemorrhage, or any bleeding requiring a return to the theater), minor bleeding (ecchymosis, epistaxis, hematuria), and wound complications. The risk of bias for all included studies was assessed according to the Cochrane Collaboration's tool. After screening 974 studies, 12 randomized clinical trials (RCTs) were included, involving 5,088 participants, including 2,540 participants in aspirin, 2,205 participants in rivaroxaban, and 323 participants in warfarin. Aspirin was found to be less effective than oral anticoagulants in thromboprophylaxis after major orthopedic surgery (RR = 1.206, 95% CI 1.053-1.383). After subgroup analysis according to the type of oral anticoagulant, the results showed that aspirin was similar to rivaroxaban and inferior to warfarin. Considering that the studies in the warfarin group were all conducted before 2000, our results need to be further confirmed. In addition, the aspirin group had a higher risk of VTE than the control group in other subgroups, including a follow-up time of ≤3 months, type of procedure as TKA, high-dose aspirin (≥650 mg qd), and no combined use of mechanical prophylaxis. In terms of safety events, aspirin did not show significant differences in major bleeding (RR = 0.952, 95% CI 0.499-1.815), all-cause mortality (RR = 1.208, 95% CI 0.459-3.177), and wound-related events (RR = 0.618, 95% CI 0.333-1.145) compared with oral anticoagulants, and aspirin was associated with a reduction in the risk of minor bleeding (RR = 0.685, 95% CI 0.552-0.850) events and total bleeding (RR = 0.726, 95% CI 0.590-0.892). Aspirin reduces bleeding risk after major orthopedic surgery compared with oral anticoagulants, but may sacrifice VTE prevention to some extent. Updated evidence is needed to analyze the thromboprophylaxis effects of aspirin in patients undergoing major orthopedic surgery. https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=463481, identifier CRD42023463481.
PubMed: 38259284
DOI: 10.3389/fphar.2023.1326224 -
Journal of Caring Sciences Dec 2023Angiography stands as the paramount and definitive diagnostic method for coronary artery disease. However, akin to various other invasive procedures, it may carry a...
INTRODUCTION
Angiography stands as the paramount and definitive diagnostic method for coronary artery disease. However, akin to various other invasive procedures, it may carry a multitude of complications. This study sought to assess the incidence of vascular complications post-arterial sheath removal, comparing the use of a ClampEase device against manual compression.
METHODS
This quasi-experimental clinical trial involved patients undergoing angiography at the post-angiography ward in Isfahan, Iran. A total of 91 patients were selected through convenience sampling and randomly assigned to either the manual compression or ClampEase device groups. Monitoring common vascular complications like hemorrhage, hematomas, and ecchymosis occurred up to 24 hours post-arterial sheath removal. Data were collected using a digital scale model DM3, a transparent flexible ruler, and a questionnaire named 'vascular complications after angiography.' Analysis was performed using SPSS software version 13.
RESULTS
Statistical analysis revealed that, when compared to the manual method, compression with the ClampEase device led to fewer vascular complications in patients and a quicker return to homeostasis.
CONCLUSION
The findings underscore that the ClampEase method is a safer alternative with fewer vascular complications than the manual compression method. This discovery has implications for reducing hospital costs and length of stay. The ClampEase device is associated with a swifter time to hemostasis, contributing to enhanced patient comfort and acceptance.
PubMed: 38249998
DOI: 10.34172/jcs.2023.30700 -
Wideochirurgia I Inne Techniki... Dec 2023Endoscopic parathyroidectomy(EPTX) has been gradually introduced as a minimally invasive treatment for refractory secondary hyperparathyroidism (SHPT). However, it is...
INTRODUCTION
Endoscopic parathyroidectomy(EPTX) has been gradually introduced as a minimally invasive treatment for refractory secondary hyperparathyroidism (SHPT). However, it is uncertain about the efficacy and safety compared between EPTX and open parathyroidectomy (OPTX) for refractory SHPT.
AIM
This meta-analysis was conducted to evaluate the efficacy and safety of EPTX and OPTX for secondary hyperp arathyroidism (SHPT).
MATERIAL AND METHODS
Databases including PubMed, EMbase, Cochrane Library, CNKI, and Wanfang were searched. Eligible studies comparing EPTX and OPTX for refractory SHPT were included.
RESULTS
Compared with OPTX, EPTX has the shorter hospital stay (p < 0.01) and lower incidences of hoarseness or recurrent laryngeal nerve injury (p = 0.04). There was no significant difference between EPTX and OPTX concerning operation time (p = 0.49), intraoperative blood loss (p = 0.24), postoperative parathyroid hormone levels (p = 0.22), postoperative calcium levels (p = 0.93), postoperative phosphorus levels (p = 0.37), and complications including neck ecchymosis (p = 0.87), subcutaneous haematoma (p = 0.18), and wound infection (p = 0.11).
CONCLUSIONS
EPTX and OPTX are both effective methods for refractory SHPT. EPTX had the shorter hospital stay and lower incidences of hoarseness or recurrent laryngeal nerve injury.
PubMed: 38239584
DOI: 10.5114/wiitm.2023.132439 -
Iranian Endodontic Journal 2024This case report highlights a rare complication of root canal treatment involving the inadvertent extrusion of sodium hypochlorite solution, resulting in a sodium...
This case report highlights a rare complication of root canal treatment involving the inadvertent extrusion of sodium hypochlorite solution, resulting in a sodium hypochlorite-induced facial hematoma. A 44-year-old female patient presented significant right hemifacial swelling and ecchymosis following root canal therapy. Computed tomography imaging confirmed a hematoma involving the facial region without active signs of bleeding. Sodium hypochlorite, a potent cytotoxic agent commonly used in root canal procedures, was identified as the causative agent. Treatment consisted of prednisone, antibiotics, and NSAIDs, resulting in gradual improvement over a month. The cytotoxic properties of sodium hypochlorite, its variable concentrations, and risk factors associated with facial hematomas are discussed. It is essential to emphasize the rarity of such hematomas and highlight the need for precise technique, vigilant monitoring, and interdisciplinary collaboration to mitigate risks and prioritize patient safety.
PubMed: 38223834
DOI: 10.22037/iej.v19i1.43306 -
International Journal of Surgery Case... Feb 2024Posterolateral knee dislocations are rare, complex injuries predominantly resulting from high-energy trauma. They present significant diagnostic and therapeutic...
INTRODUCTION AND IMPORTANCE
Posterolateral knee dislocations are rare, complex injuries predominantly resulting from high-energy trauma. They present significant diagnostic and therapeutic challenges, crucial for maintaining long-term knee function and stability.
CASE PRESENTATION
We report the case of Mr. Y.G., a 34-year-old male who suffered a left knee posterolateral dislocation due to a motorcycle accident. Clinical examination and imaging revealed a valgus deformity, swelling, ecchymosis, and a persistent medial joint line groove. The injury was classified based on NEYRET et al. criteria and 2008 SOFCOT standards. Surgical intervention involved repairing medial structures and applying a femoro-tibial external fixator. Radiographic and MRI findings confirmed a complete capsuloligamentous rupture and chondral injury of the lateral condyle.
CLINICAL DISCUSSION
This case exemplifies the critical need for rapid radiological evaluation and tailored surgical interventions in managing posterolateral knee dislocations. It also demonstrates the effectiveness of using established classification systems for treatment planning and prognostic prediction.
CONCLUSION
Timely and suitable management is essential for successfully treating posterolateral knee dislocations. Utilizing recognized classification systems plays a key role in guiding management decisions and improving patient outcomes, ensuring optimal recovery and knee functionality.
PubMed: 38211553
DOI: 10.1016/j.ijscr.2023.109204 -
European Journal of Trauma and... Apr 2024To investigate the effect of antithrombotics on the occurrence of maxillofacial haemorrhagic symptoms, and to determine if these haemorrhagic symptoms are predictors of...
PURPOSE
To investigate the effect of antithrombotics on the occurrence of maxillofacial haemorrhagic symptoms, and to determine if these haemorrhagic symptoms are predictors of maxillofacial fractures.
METHOD
A prospective cohort study was conducted of consecutive patients with maxillofacial trauma who had been admitted to the emergency department of four hospitals in the Netherlands. This study compared five haemorrhagic symptoms (peri-orbital haematoma, raccoon eyes, epistaxis, subconjunctival ecchymosis, and intra-oral haematoma) between patients not-using (NUA) and using (UA) of antithrombotics, and whether these maxillofacial haemorrhagic symptoms served as predictors for maxillofacial fractures.
RESULTS
Out of the 1005 patients, 812 (81%) belonged to the NUA group, and 193 (19%) to the UA group. UA patients exhibited higher frequencies of peri-orbital hematoma (54% vs. 39%, p < 0.001), raccoon eyes (10% vs. 5%, p = 0.01), and subconjunctival ecchymoses (16% vs. 7%, p < 0.001). In NUA, peri-orbital hematoma (OR = 2.5, p < 0.001), epistaxis (OR = 4.1, p < 0.001), subconjunctival ecchymosis (OR = 2.3, p = 0.02), and intra-oral hematoma (OR = 7.1, p < 0.001) were significant fracture predictors. Among UA, peri-orbital hematoma (OR = 2.2, p = 0.04), epistaxis (OR = 5.4, p < 0.001), subconjunctival ecchymosis (OR = 3.7, p = 0.008), and intra-oral hematoma (OR = 22.0, p < 0.001) were significant fracture predictors.
CONCLUSION
Maxillofacial haemorrhagic symptoms were observed more frequently in the UA group than in the NUA group. However, in both groups, maxillofacial haemorrhagic symptoms appear to be predictors of maxillofacial fractures. Caution is warranted in attributing these symptoms solely to antithrombotic use during emergency department assessments.
Topics: Humans; Male; Emergency Service, Hospital; Female; Prospective Studies; Middle Aged; Ecchymosis; Epistaxis; Fibrinolytic Agents; Maxillofacial Injuries; Netherlands; Adult; Aged; Hemorrhage; Hematoma
PubMed: 38197899
DOI: 10.1007/s00068-023-02428-0