-
Transfusion and Apheresis Science :... Jun 2024Due to their low frequency, there is little information on the molecular pathologies of rare bleeding disorders (RBD). Therefore, this study aimed to analyze the...
INTRODUCTION
Due to their low frequency, there is little information on the molecular pathologies of rare bleeding disorders (RBD). Therefore, this study aimed to analyze the molecular and clinical profiles of patients with RBD.
METHODS
A retrospective single-center study was conducted among patients with factor (F) II, FVII, FX, and FXIII deficiencies between March 20, 2000, and June 31, 2023. Data on patient demographics, genetic analysis, and laboratory results were documented for all patients. The disease severity was classified according to the clotting factor activity (except FXIII) as follows: >5%: mild, 1-5%: moderate, and <1%: severe.
RESULTS
A total of 79 patients were enrolled in this study. Three of the cases had FII (3.7%), 40 had FVII (50.6%), 20 had FX (25.3%), and 16 had FXIII deficiency (20.2%). The median age of the patients at the time of diagnosis was six months for FII, 6.5 years for FVII, five months for FX, and 5.75 months for FXIII deficiencies, respectively. The major clinical manifestations were bruising, epistaxis, oral cavity bleeding, ecchymosis, and hemarthrosis. Consanguinity was present in 60 (76%) of patients. The majority of the patients had missense mutations. FVII mutations occurred primarily in exon 6, FX mutations affected mainly exons 2 and 7, and the majority of FXIII mutations occurred in exons 3 and 4.
CONCLUSION
The diagnosis of the causative mutations in patients with RBD provides an insight into the underlying molecular basis of these disorders and probably explains their variable clinical manifestations.
Topics: Humans; Retrospective Studies; Male; Female; Child; Infant; Child, Preschool; Rare Diseases; Adolescent
PubMed: 38614915
DOI: 10.1016/j.transci.2024.103921 -
Journal of Tissue Viability May 2024In this study, we evaluated the pH (potential of hydrogen) value of diabetic foot ulcers and explored the relationship between the pH value and infection, sinus... (Observational Study)
Observational Study
OBJECTIVE
In this study, we evaluated the pH (potential of hydrogen) value of diabetic foot ulcers and explored the relationship between the pH value and infection, sinus formation, stasis dermatitis, and the process of healing.
METHODS
From October 2022 to June 2023, 99 patients with 106 diabetic foot ulcers were selected. Diabetic foot ulcers were treated in a standardized manner by a professional team. The pH value, area, PUSH (Pressure Ulcer Scale for Healing) score, and the degree of infection of the wounds were compared before and after the treatment.
RESULTS
The baseline wound pH value in 76.4% of the patients was in the alkaline range and was closely related to the degree of infection (P < 0.05). As the ulcers healed, the pH decreased. For moderately and severely infected diabetic foot ulcers, each unit decrease in pH was associated with a decrease in the PUSH score of approximately 4.6 points (P < 0.05). The pH values of wounds with surrounding ecchymosis dermatitis were significantly higher than those of wounds without ecchymosis dermatitis (P < 0.05). The pH value of the wound with a sinus tract was higher. After treatment, there was no significant difference in pH value between the patients with and without sinus tracts (P < 0.05).
CONCLUSIONS
The measurement of pH value is efficient and simple, and the patient suffers no discomfort in the process. The change in pH helps predict the healing process of diabetic foot ulcers and quickly identify whether there are key factors such as infection and ischemia in the wound. It is suggested that dynamic pH monitoring be included in the whole course evaluation and intervention strategy development of diabetic foot.
Topics: Humans; Diabetic Foot; Wound Healing; Male; Female; Middle Aged; Hydrogen-Ion Concentration; Aged; Aged, 80 and over; Adult
PubMed: 38599978
DOI: 10.1016/j.jtv.2024.03.015 -
Internal Medicine (Tokyo, Japan) Apr 2024
PubMed: 38599862
DOI: 10.2169/internalmedicine.3466-24 -
Plastic and Reconstructive Surgery Apr 2024Persistent intraoperative bleeding, excessive post-operative ecchymosis, epistaxis, or blood collection in the supratip area increases the complexity of rhinoplasty,...
BACKGROUND
Persistent intraoperative bleeding, excessive post-operative ecchymosis, epistaxis, or blood collection in the supratip area increases the complexity of rhinoplasty, causing suboptimal outcomes. We present an intraoperative bleeding management algorithm developed by the senior author (B.G.) based on 43 years of experience and assess its efficacy in achieving hemostatic control through 103 consecutive cases.
METHODS
A retrospective chart review was conducted on 103 consecutive patients who had undergone septorhinoplasty by a single surgeon. Patient demographics, coagulopathies, medications, diet, intraoperative use of tranexamic acid (TXA), desmopressin (DDAVP), Vitamin K, and post-operative complications were reviewed.
RESULTS
Twenty-six (25.2%) patients did not receive intraoperative hemostatic agents. Twenty-six (25.2%) patients required TXA only, three (2.91%) patients were given DDAVP only, one (0.97%) patient received Vitamin K only, and forty-six (44.7%) patients required both TXA and DDAVP. One (0.97%) patient needed TXA, DDAVP, and vitamin K. Intraoperative bleeding was controlled in all patients. One patient with known factor 11 deficiency received both TXA and DDAVP intraoperatively but did not require fresh frozen plasma. Intraoperative bleeding was controlled by first administering 10 mg/kg of TXA intravenously, followed by DDAVP with a maximum dose of 0.3 mcg if needed, and 10 mg of Vitamin K if bleeding persisted. Patients with known type I or IIa Von Willebrand disease received DDAVP preoperatively. No patient experienced post-operative epistaxis, thromboembolism, or other associated complications.
CONCLUSION
The algorithm of TXA, DDAVP, and Vitamin K is effective in controlling excessive intraoperative bleeding, post-operative ecchymosis, and epistaxis.
LEVEL OF EVIDENCE
IV.
PubMed: 38589989
DOI: 10.1097/PRS.0000000000011462 -
Heliyon Apr 2024Tracheal injury is a rare but potentially serious acute complication of endotracheal intubation. Very few cases of tracheal injury associated with coagulation...
BACKGROUND
Tracheal injury is a rare but potentially serious acute complication of endotracheal intubation. Very few cases of tracheal injury associated with coagulation abnormalities have been reported in the literature. We present a rare case of a patient presenting with tracheal injury in combination with coagulation abnormalities following thyroidectomy.
CASE PRESENTATION
A 58-year-old woman with a history of postoperative chemotherapy for breast cancer, gastric polyps, multiple colonic polyps, esophageal papillary adenomas, and thyroid adenomas presented with dyspnea following 10 ml hemoptysis on the third day after thyroidectomy; she was admitted to the intensive care unit and underwent tracheal intubation for maintaining the airway. Subsequent bronchoscopy revealed a nodular red neoplasm 5-cm from the carina in the trachea obstructing part of the lumen, with a small amount of fresh hemorrhage on the surface. Tracheal injury was considered the preliminary diagnosis. Fiberoptic bronchoscope guided tracheal intubation helped prevent rupture of the tumor, and the cannula was properly inflated to arrest the bleeding while blocking the lower part of the trachea. An emergency surgical evacuation of the cervical hematoma was performed for managing postoperative bleeding. The patient demonstrated persistent pancytopenia despite frequent transfusions. Laboratory examination results revealed abnormal coagulation parameters, anemia, and hepatic dysfunction. Following a multidisciplinary team discussion, pituitrin for hemostasis, tranexamic acid for strengthening hemostasis treatment, and nutritional support and anti-infection treatment were initiated. Endotracheal tube cuff inflation was performed to compress the bleeding site. Complete resolution of the subcutaneous hematoma was observed nine days after the tracheal injury; bronchoscopy revealed residual ecchymosis in the airway hematoma with no evidence of obstruction.
CONCLUSION
Conservative management of tracheal injury limited to the mucosa or submucosa without significant amount of active bleeding using endotracheal intubation is considered a practical and effective approach. Successful management was ensured by appropriate clinical suspicion, early multidisciplinary team discussion, and prompt diagnosis and interventions.
PubMed: 38586347
DOI: 10.1016/j.heliyon.2024.e28737 -
Journal of Ultrasound in Medicine :... Jul 2024Early diagnosis of relative afferent pupillary defects (RAPDs) in patients with ocular trauma is crucial for timely management and improved outcomes. However, clinical...
Diagnostic Value of Point-of-Care Ultrasound-Guided Assessment of Relative Afferent Pupillary Defect in Adult Ocular Trauma Patients Presenting to the Emergency Department: A Prospective Cohort Study.
OBJECTIVES
Early diagnosis of relative afferent pupillary defects (RAPDs) in patients with ocular trauma is crucial for timely management and improved outcomes. However, clinical examination can be challenging for patients with periorbital ecchymosis. This study aimed to compare the diagnostic accuracy of point-of-care ultrasound (POCUS) and clinical examination by emergency physicians for detecting RAPD in adult ocular trauma patients and to evaluate the proportion of RAPD in patients with ocular trauma who presented to the ED.
METHODS
This prospective cohort study was conducted at an academic emergency department in South India. Adult ocular trauma patients were assessed for RAPD using clinical examinations by emergency physicians and POCUS. The diagnostic accuracies of both methods were compared, with the ophthalmologist's final diagnosis serving as the gold standard. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for both techniques.
RESULTS
A total of 376 patients (median age, 35 years) were included in this study. RAPD was identified in 14.63% of the patients. The sensitivity and specificity of POCUS in detecting RAPD were 92.73% and 99.38%, respectively, which were higher than those of clinical examination, with a sensitivity of 81.82% and specificity of 99.07%. The PPV and NPV of the clinical examination were 93.75% and 96.95%, respectively, whereas the PPV and NPV of POCUS were 96.23% and 98.76%, respectively. POCUS accurately diagnosed RAPD in patients with periorbital ecchymosis.
CONCLUSION
POCUS-guided RAPD assessment proves to be a better diagnostic adjunct compared to clinical examination in patients with ocular trauma presenting to the emergency department.
Topics: Humans; Prospective Studies; Adult; Female; Male; Emergency Service, Hospital; Sensitivity and Specificity; Point-of-Care Systems; Eye Injuries; Pupil Disorders; Middle Aged; Cohort Studies; Ultrasonography; Young Adult; Reproducibility of Results; India
PubMed: 38581178
DOI: 10.1002/jum.16458 -
Journal of Neurosurgery Apr 2024The objective of this study was to describe the quantitative features of intraoperative electromyographic recordings obtained from cranial nerve III, IV, and VI...
OBJECTIVE
The objective of this study was to describe the quantitative features of intraoperative electromyographic recordings obtained from cranial nerve III, IV, and VI neuromonitoring using 25-mm intraorbital electrodes, in the larger context of demonstrating the practicality of this technique during neurosurgical cases.
METHODS
A 25-mm-long shaft-insulated intraorbital needle electrode is routinely used at the authors' institution for extraocular muscle (EOM) electromyographic monitoring of the inferior rectus, superior oblique, and/or lateral rectus muscles when their function is at risk. Cases monitored between January 1, 2021, and December 31, 2022, were reviewed for patient demographics, tumor location and pathology, EOMs monitored, pre- and postoperative examination, and complications from electrode placement. Compound muscle action potentials on triggered electromyography, as well as neurotonic discharges on free-run electromyography, were described quantitatively.
RESULTS
There were 141 cases in 139 patients reviewed during the 24-month time span, with 278 EOMs monitored (inferior rectus/superior oblique/lateral rectus muscles 68/68/142). Triggered electromyography yielded biphasic or triphasic compound muscle action potentials from EOMs with a mean onset latency of 1.51 msec (range 0.94-3.22 msec), mean maximal peak-to-trough amplitude of 1073.93 μV (range 76.75-7796.29 μV), and high specificity for the channel in nearly all cases. Neurotonic discharges were recorded in 30 of the 278 EOMs (with all 3 muscles represented) and associated with a greater incidence of new or worsened ophthalmoparesis (OR 4.62, 95% CI 1.3-16.4). There were 2 cases of small periorbital ecchymosis attributed to needle placement; additionally, 1 case of needle-related intraorbital hematoma occurred after the review period.
CONCLUSIONS
The 25-mm shaft-insulated intraorbital electrode facilitates robust and consistent electromyographic recordings of EOMs that are advantageous over existing techniques. Combined with the relative ease of needle placement and low rate of complications, the technique is practical for neuromonitoring during craniotomies.
PubMed: 38579353
DOI: 10.3171/2024.1.JNS231867 -
Medicine Apr 2024Megalosplenia in newly diagnosed multiple myeloma (MM) is extremely rare, posing diagnostic and therapeutic challenges due to its unusual location and clinical... (Review)
Review
INTRODUCTION
Megalosplenia in newly diagnosed multiple myeloma (MM) is extremely rare, posing diagnostic and therapeutic challenges due to its unusual location and clinical manifestations and lack of optimal therapeutic strategies.
CASE PRESENTATION
A 65-year-old female who was previously healthy presented with a history of ecchymosis on her right leg accompanied by progressive fatigue for 2 weeks. She was admitted to our center in July 2019 due to thrombocytopenia. The patient presented with megalosplenia, anemia, monoclonal protein (λ-light chain type) in the serum and urine, and 45.6% malignant plasma cells in the bone marrow. Splenectomy was performed due to persistent splenomegaly after 3 cycles of the bortezomib plus dexamethasone regimen, and immunohistochemistry results indicated λ-plasmacytoma of the spleen. The same cytogenetic and molecular abnormalities, including t(14;16), 14q32 amplification, 16q32 amplification, 20q12 amplification, and a novel CYLD gene mutation, were identified using fluorescence in situ hybridization and next-generation sequencing in both bone marrow and spleen samples. Therefore, a diagnosis of MM (λ-light chain type, DS III, ISS III, R-ISS III, high-risk) with spleen infiltration was proposed. The patient did not achieve remission after induction treatment with bortezomib plus lenalidomide and dexamethasone or salvage therapy with daratumumab plus ixazomib and dexamethasone. However, she ultimately did achieve very good partial remission with a regimen of bendamustine plus lenalidomide and dexamethasone. Unfortunately, she died of pneumonia associated with chemotherapy.
CONCLUSION
To our knowledge, only 8 cases of spleen plasmacytoma at MM diagnosis have been described previously. Extramedullary myeloma patients with spleen involvement at diagnosis are younger and that the condition is usually accompanied by splenic rupture with aggressive clinical features and poor prognosis. Further studies are needed to explore pathogenesis and effective therapies to prolong the survival of such patients.
Topics: Humans; Female; Aged; Multiple Myeloma; Lenalidomide; Bortezomib; Plasmacytoma; In Situ Hybridization, Fluorescence; Dexamethasone; Mutation; Antineoplastic Combined Chemotherapy Protocols; Deubiquitinating Enzyme CYLD
PubMed: 38579060
DOI: 10.1097/MD.0000000000037624 -
Zhonghua Shao Shang Yu Chuang Mian Xiu... Mar 2024To analyze the clinical characteristics of patients with infection, share diagnosis and treatment experience, and establish a rapid diagnosis procedure for this...
To analyze the clinical characteristics of patients with infection, share diagnosis and treatment experience, and establish a rapid diagnosis procedure for this disease. This study was a retrospective case series study. From January 2009 to November 2022, 11 patients with infection who met the inclusion criteria were admitted to the Department of Burns and Wound Repair of Guangdong Provincial People's Hospital Affiliated to Southern Medical University. The gender, age, time of onset of illness, time of admission, time of diagnosis, route of infection, underlying diseases, affected limbs, clinical manifestations and signs on admission, white blood cell count, hemoglobin, platelet count, C-reactive protein (CRP), alanine transaminase (ALT), aspartate transaminase (AST), creatinine, procalcitonin, albumin, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and blood sodium levels on admission, culture results and metagenomic next-generation sequencing (mNGS) results of pathogenic bacteria and the drug susceptibility test results during hospitalization, treatment methods, length of hospital stay, and outcomes of all patients were recorded. Comparative analysis was conducted on the admission time and diagnosis time of patients with and without a history of exposure to seawater/marine products, as well as the fatality ratio and amputation of limbs/digits ratio of patients with and without early adequate antibiotic treatment. For the survived patients with hand involvement, the hand function was assessed using Brunnstrom staging at the last follow-up. Based on patients' clinical characteristics and treatment conditions, a rapid diagnosis procedure for infection was established. There were 7 males and 4 females among the patients, aged (56±17) years. Most of the patients developed symptoms in summer and autumn. The admission time was 3.00 (1.00, 4.00) d after the onset of illness, and the diagnosis time was 4.00 (2.00, 8.00) d after the onset of illness. There were 7 and 4 patients with and without a history of contact with seawater/marine products, respectively, and the admission time of these two types of patients was similar (>0.05). The diagnosis time of patients with a history of contact with seawater/marine products was 2.00 (2.00, 5.00) d after the onset of illness, which was significantly shorter than 9.00 (4.25, 13.00) d after the onset of illness for patients without a history of contact with seawater/marine products (=-2.01, <0.05). Totally 10 patients had underlying diseases. The affected limbs were right-hand in 8 cases, left-hand in 1 case, and lower limb in 2 cases. On admission, a total of 9 patients had fever; 11 patients had pain at the infected site, and redness and swelling of the affected limb, and 9 patients each had ecchymosis/necrosis and blisters/blood blisters; 6 patients suffered from shock, and 2 patients developed multiple organ dysfunction syndrome. On admission, there were 8 patients with abnormal white blood cell count, hemoglobin, and albumin levels, 10 patients with abnormal CRP, procalcitonin, and NT-proBNP levels, 5 patients with abnormal creatinine and blood sodium levels, and fewer patients with abnormal platelet count, ALT, and AST levels. During hospitalization, 4 of the 11 wound tissue/exudation samples had positive pathogenic bacterial culture results, and the result reporting time was 5.00 (5.00, 5.00) d; 4 of the 9 blood specimens had positive pathogenic bacterial culture results, and the result reporting time was 3.50 (1.25, 5.00) d; the mNGS results of 7 wound tissue/exudation or blood samples were all positive, and the result reporting time was 1.00 (1.00, 2.00) d. The three strains of detected were sensitive to 10 commonly used clinical antibiotics, including ciprofloxacin, levofloxacin, and amikacin, etc. A total of 10 patients received surgical treatment, 4 of whom had amputation of limbs/digits; all patients received anti-infection treatment. The length of hospital stay of 11 patients was (26±11) d, of whom 9 patients were cured and 2 patients died. Compared with that of the 6 patients who did not receive early adequate antibiotic treatment, the 5 patients who received early adequate antibiotic treatment had no significant changes in the fatality ratio or amputation of limbs/digits ratio (>0.05). In 3 months to 2 years after surgery, the hand function of 8 patients was assessed, with results showing 4 cases of disabled hands, 2 cases of incompletely disabled hands, and 2 cases of recovered hands. When a patient had clinical symptoms of limb redness and swelling and a history of contact with seawater/marine products or a pre-examination triage RiCH score of sepsis ≥1, the etiological testing should be initiated immediately to quickly diagnose infection. infection occurs most frequently in summer and autumn, with clinical manifestations and laboratory test results showing obvious infection characteristics, and may be accompanied by damage to multiple organ functions. Both the fatality and disability ratios are high and have a great impact on the function of the affected limbs. Early diagnosis is difficult and treatment is easily delayed, but mNGS could facilitate rapid detection. For patients with red and swollen limbs accompanied by a history of contact with seawater/marine products or with a pre-examination triage RiCH score of sepsis ≥1, the etiological testing should be initiated immediately to quickly diagnose infection.
Topics: Male; Female; Humans; Retrospective Studies; Blister; Creatinine; Procalcitonin; Vibrio vulnificus; Sepsis; Upper Extremity; Albumins; Anti-Bacterial Agents; Hemoglobins; Sodium; Vibrio Infections
PubMed: 38548397
DOI: 10.3760/cma.j.cn501225-20230803-00036 -
Plastic and Reconstructive Surgery Mar 2024Tissue expansion for treating giant congenital melanocytic nevi (GCMN) is a commonly employed surgical method. However, the procedure's efficacy is often hindered by...
BACKGROUND
Tissue expansion for treating giant congenital melanocytic nevi (GCMN) is a commonly employed surgical method. However, the procedure's efficacy is often hindered by anatomical and histological characteristics as well as blood supply, particularly in the extremities and trunk. Enhancing expansion efficiency while reducing complications is thus a topic to be investigated, especially for pediatric patients undergoing rapid physical and psychological development with higher risks of non-compliance to medical instructions.
OBJECT
To explore the effectiveness of expansion in extremities and trunk by immobilizing the acellular dermal matrix (ADM) in the gravitational force zone of inflating expanders.
METHODS
All patients involved in this research underwent ADM-assisted tissue expansion in either the extremities or trunk. ADM was fully flattened, securely fixed to the lower pole of the expander, and subsequently attached to the inner surface of the expanding flap.
RESULTS
From 2021 to 2023, a total of nine pediatric patients with GCMN underwent the ADM-assisted tissue expansion. All patients achieved the desired expanding volume without experiencing petechiae, ecchymosis, or skin ulceration in the ADM-covered area. The process was well tolerated by all patients, with no reports of itching, pain, allergic reaction, or fever. During the flap transfer, the ADM was observed to be firmly adhered to the expanding flap with discernible capillary network.
CONCLUSION
ADM-assisted tissue expansion demonstrates promise in augmenting expansion efficiency and reducing the time needed for surgical intervention in the extremities and trunk, thereby presenting significant clinical value for pediatric patients afflicted with GCMN.
PubMed: 38546404
DOI: 10.1097/PRS.0000000000011434