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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 -
Medicine Sep 2023The purpose of this study was to explore efficacy of locally injected tranexamic acid (TXA) at a concentration of 1 mg/mL for reduction perioperative bleeding and...
BACKGROUND
The purpose of this study was to explore efficacy of locally injected tranexamic acid (TXA) at a concentration of 1 mg/mL for reduction perioperative bleeding and postoperative complications in subcutaneous tumor excisions. We present the protocol and also compare results between the group of use antithrombotic group and not used.
METHODS
This is a retrospective study. Fifty-three patients were divided into 3 groups. Group 1 (n = 14): using antithrombotic drugs (antiplatelet or anticoagulants) with locally injected TXA. Group 2 (n = 17): using antithrombotic drugs without locally injected TXA. Group 3 (n = 22): not using antithrombotic drugs but with locally injected TXA. TXA was diluted to 1 mg/mL for use based on our experience. All patients were operated by 1 surgeon in 1 single medical center in Taipei from March 1st, 2020, to March 31st 2022. Outcomes such as the quality of perioperative surgical field and postoperative surgical complications were evaluated and compared. The quality of field was intraoperatively recorded by an assessment and photos from the surgeon. The statistical relationships between the complication rates were analyzed using χ2 test and a 1-way ANOVA by SPSS 25.
RESULTS
From Groups 1 and 3, a total of 36 patients, 29 patients had a clear surgical field during procedure. When comparing Groups 1 and 2, use of locally injected TXA had greater positive advantage in terms of a clearer vision whilst surgery (P = .031). Group 2 had more minor complications such as hematoma, severe ecchymosis, wound dehiscence, wound infection. By postoperatively reducing hematomas for 24 hours, it significantly reduce the incidence of abovementioned minor complications (P = .036). With the help of locally injected TXA, shorter time was required to remove drain, hence reducing duration of in-hospital stay.
CONCLUSION
The use of locally injected TXA whilst performing subcutaneous surgery on patients taking antithrombotic drugs is cost-effective. It could reduce bleeding and provide a more effective surgical field. In our study, favorable results were obtained from the use of diluted tranexamic acid (1 mg/mL) mixed with lidocaine, namely in clearing the surgical field as well as reducing postoperative surgical complications.
Topics: Humans; Tranexamic Acid; Fibrinolytic Agents; Retrospective Studies; Postoperative Complications; Surgeons; Hematoma
PubMed: 37657042
DOI: 10.1097/MD.0000000000034900 -
Toxins Apr 2024Green pit viper bites induce mild toxicity with painful local swelling, blistering, cellulitis, necrosis, ecchymosis and consumptive coagulopathy. Several bite cases of...
Green pit viper bites induce mild toxicity with painful local swelling, blistering, cellulitis, necrosis, ecchymosis and consumptive coagulopathy. Several bite cases of green pit vipers have been reported in several south-east Asian countries including the north-eastern region of India. The present study describes isolation and characterization of a haemostatically active protein from venom responsible for coagulopathy. Using a two-step chromatographic method, a snake venom serine protease erythrofibrase was purified to homogeneity. SDS-PAGE of erythrofibrase showed a single band of ~30 kDa in both reducing and non-reducing conditions. The primary structure of erythrofibrase was determined by ESI LC-MS/MS, and the partial sequence obtained showed 77% sequence similarity with other snake venom thrombin-like enzymes (SVTLEs). The partial sequence obtained had the typical 12 conserved cysteine residues, as well as the active site residues (His57, Asp102 and Ser195). Functionally, erythrofibrase showed direct fibrinogenolytic activity by degrading the Aα chain of bovine fibrinogen at a slow rate, which might be responsible for causing hypofibrinogenemia and incoagulable blood for several days in envenomated patients. Moreover, the inability of Indian polyvalent antivenom (manufactured by Premium Serum Pvt. Ltd., Maharashtra, India) to neutralize the thrombin-like and plasmin-like activity of erythrofibrase can be correlated with the clinical inefficacy of antivenom therapy. This is the first study reporting an α-fibrinogenase enzyme erythrofibrase from venom, which is crucial for the pathophysiological manifestations observed in envenomated victims.
Topics: Animals; India; Trimeresurus; Crotalid Venoms; Fibrinogen; Serine Proteases; Amino Acid Sequence; Snake Bites
PubMed: 38668626
DOI: 10.3390/toxins16040201 -
Case Reports in Women's Health Sep 2023A 23-year-old woman, G0, presented to the emergency department with painful bruising of the legs shortly after starting an oral contraceptive pill. The presumed...
A 23-year-old woman, G0, presented to the emergency department with painful bruising of the legs shortly after starting an oral contraceptive pill. The presumed diagnosis was pill-induced ecchymosis, and she was instructed to discontinue the medication. Her bruising resolved. However, the working diagnosis was later questioned as the patient had used other oral contraceptive pills in the past without any adverse reaction. In addition, there is robust literature associating these medications with thrombosis, not bruising. The patient later disclosed that she had concomitantly started an oral hair supplement along with her oral contraceptive pill. Analysis of the supplement contents revealed that it contained extract of , a herbal anticoagulant, making this a much more plausible explanation for the ecchymosis. She then resumed the original oral contraceptive pill alone without any reaction. The case highlights how cognitive bias resulted in a misdiagnosis. Specifically, this case introduces the concept of , as the patient's unexplained bruising was presumed to be a result of her use of an oral contraceptive despite the lack of evidence to support this claim. This bias has the potential to impact clinical decision-making and lead to clinical errors.
PubMed: 37719129
DOI: 10.1016/j.crwh.2023.e00538 -
Frontiers in Nutrition 2023Scurvy, resulting from vitamin C deficiency, has nonspecific constitutional symptoms, including weakness, malaise, and fatigue. It is frequently misdiagnosed due to the...
Scurvy, resulting from vitamin C deficiency, has nonspecific constitutional symptoms, including weakness, malaise, and fatigue. It is frequently misdiagnosed due to the lack of specific clinical manifestations. Although there are sporadic cases of scurvy currently reported in children, scurvy in young people is seldom encountered. Here, we report on a 25-year-old male patient without any underlying conditions who presented with severe pain and ecchymoses of both lower extremities. He was diagnosed with scurvy due to a long history of staying indoors and inadequate intake of fruits or vegetables.
PubMed: 37915623
DOI: 10.3389/fnut.2023.1265334 -
Clinical Case Reports May 2024In a patient with de novo AML, co-existing isoform and rearrangement is accompanied by a very poor prognosis including limited response to treatment and no molecular...
KEY CLINICAL MESSAGE
In a patient with de novo AML, co-existing isoform and rearrangement is accompanied by a very poor prognosis including limited response to treatment and no molecular remission. It is essential to develop a consensus on the therapeutic modalities different from the current regimen.
ABSTRACT
Acquisition of fusion as a primary or secondary event and fusion independently is reported in de novo and therapy-related MDS/AML, albeit with low frequency (<0.5%). Coexistence of and translocation is known to cause leukemogenesis in animal models and progression towards blast crisis CML but not AML. Here we report a unique case of pediatric AML with concomitant BCR::ABL1 and RUNX1::MECOM fusion.Routine diagnostic work-up included WBC manual differential, immunophenotype, morphology, qPCR, FISH, and NGS-based CNV analyses. The patient presented with history of fever, dizziness, fatigue, gingival bleeding, and epistaxis associated with ecchymosis in right hand and heavy, prolonged menstrual period. At presentation, her hemoglobin was 5.3 g/dL, WBC 52.1(10*9/L), PLT 10(10*9/L), ESR 5 mm/h and LDH 2658 U/L. Bone marrow was hypercellular with 71% blasts, and flow cytometry showed myeloid markers including CD11c, CD33, CD34, and CD45 among others indicating AML with monocytic differentiation. FISH analyses showed variant t(9;22) (q34.1;q11.1), one additional copy each of chromosome 8 and gene, while NGS-based CNV analyses revealed a terminal and proximal pathogenic gain within 9q34.12q34.3 and 22q11.1q11.23, respectively, and gain of entire chromosome 8 and 12 in mosaic state. qPCR confirmed the presence of and also revealed fusion. Patient received ADE (cytarabine, daunorubicin, and etoposide) induction regimen but required multiple ICU admissions due to sepsis, cardiac shock, acute myocarditis, and thyroiditis. Coexisting and fusion is suggestive of poor prognosis, and a need for consensus on the treatment modalities other than the current regimen is warranted.
PubMed: 38751957
DOI: 10.1002/ccr3.8917 -
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 -
International Wound Journal Nov 2023Ultrasound (US) has traditionally been recognised for its imaging capabilities, but its emerging role as a therapeutic modality in postoperative wound management,...
Ultrasound (US) has traditionally been recognised for its imaging capabilities, but its emerging role as a therapeutic modality in postoperative wound management, especially in paediatric care, has garnered significant attention. This meta-analysis aimed to evaluate the influence of US on postoperative wound healing and infection rates in paediatric patients. From an initial pool of 1236 articles, seven were deemed suitable for inclusion. Postoperative wound healing was assessed using the Redness, Edema, Ecchymosis, Discharge, and Approximation (REEDA) scale. Notably, there was a significant difference in wound healing patterns between the US-treated and control groups (I = 94%, standardized mean difference [SMD]: -4.60, 95% confidence intervals [CIs]: -6.32 to -2.88, p < 0.01), as illustrated in Figure 4. Additionally, a marked difference in wound infection rates was observed between the groups (I = 93%, SMD: -5.86, 95% CIs: -9.04 to -2.68, p < 0.01), as portrayed in Figure 5. The findings underscore the potential benefits of US in enhancing postoperative wound healing and reducing infection rates in paediatric surgical settings. However, the application of US should be judicious, considering the nuances of individual patient needs and clinical contexts.
PubMed: 37931597
DOI: 10.1111/iwj.14462 -
Journal of Gastrointestinal Oncology Aug 2023Compared to hepatic artery infusion chemotherapy (HAIC) treatment through the femoral artery (TFA), the brachial artery (TBA) is more flexible and easier for patients to...
BACKGROUND
Compared to hepatic artery infusion chemotherapy (HAIC) treatment through the femoral artery (TFA), the brachial artery (TBA) is more flexible and easier for patients to accept. However, the feasibility of TBA has not been studied yet. This study aims to evaluate the feasibility and safety of HAIC via the TBA.
METHODS
We retrospectively reviewed the medical records of 63 patients with primary liver cancer who were treated with HAIC via TBA. In this study, a total of 163 HAIC procedures were performed via the left brachial artery pathway, and each patient underwent an average of 2.59 procedures. One patient received 5 treatments, 18 patients received 4 treatments, 15 patients received 3 treatments, 12 patients received 2 treatments, and 17 patients received 1 treatment. The main evaluation indicators were the technical success rate and complication rate.
RESULTS
The main technical success rate was 99.4% (162/163). No patient required conversion to the femoral artery (TFA) access. All the complications were minor and occurred in 11 patients (6.75%). Subcutaneous ecchymosis occurred in 3 (1.84%) patients, arterial thrombosis in 2 patients (1.23%), and catheter displacement in 6 patients (3.68%). No serious complications occurred.
CONCLUSIONS
TBA pathway is feasible and safe for HAIC treatment of liver cancer patients. More research is needed in the future to confirm whether TBA is superior to other pathways.
PubMed: 37720451
DOI: 10.21037/jgo-23-523 -
World Journal of Surgical Oncology Feb 2024Radiation therapy is often indicated as part of the treatment for breast cancer and is therefore used frequently worldwide. Vasculopathy is a general term used to...
BACKGROUND
Radiation therapy is often indicated as part of the treatment for breast cancer and is therefore used frequently worldwide. Vasculopathy is a general term used to describe any condition that affects blood vessels. We present a case report of a patient who presented with vasculopathy as a rare late side effect of radiation therapy to the breast.
CASE PRESENTATION
This 66-year-old woman was initially treated with breast-conserving surgery for early-stage receptor-positive left breast carcinoma. She received postoperative radiation therapy and hormonal treatment with tamoxifen. She developed sudden spontaneous painless ecchymosis spread over the whole irradiated area 1.5 years after finishing her radiation therapy. Tumor relapse was excluded. There was no associated vasculitis. The cause was presumed to be multifactorial. She had a history of smoking and was known to have hyperlipidemia. She had undergone several surgical treatments at the left breast one year after her initial breast-conserving treatment and was taking tamoxifen. Anti-inflammatory medicine and treatments increasing local blood flow were prescribed. The ecchymosis resolved completely within one month.
CONCLUSIONS
Vasculopathy can occur as a rare late side effect of radiation therapy. It can be reversible. Prevention begins with carefully treating precipitating factors.
Topics: Humans; Female; Aged; Ecchymosis; Neoplasm Recurrence, Local; Breast Neoplasms; Tamoxifen; Mastectomy, Segmental; Vascular Diseases
PubMed: 38383372
DOI: 10.1186/s12957-024-03346-0