Objective: To summarize the clinical characteristics and gene variants of 2 pedigrees of non-muscle myosin heavy chain 9 related diseases (MYH9-RD) in children. Methods: The basic information, clinical features, gene variants and laboratory tests of MYH9-RD patients from 2 pedigrees confirmed in the First Affiliated Hospital of Zhengzhou University in November 2021 and July 2022 were analyzed retrospectively. "Non-muscle myosin heavy chain 9 related disease" "MYH9" and "children" were used as key words to search at Pubmed database, CNKI and Wanfang database up to February 2023. The MYH9-RD gene variant spectrum and clinical data were analyzed and summarized. Results: Proband 1 (male, 11 years old) sought medical attention due to epistaxis, the eldest sister and second sister of proband 1 only showed excessive menstrual bleeding, the skin and mucous membrane of the their mother were prone to ecchymosis after bumping, the uncle of proband 1 had kidney damage, and the maternal grandmother and maternal great-grandmother of proband 1 had a history of cataracts. There were 7 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that the proband 1 MYH9 gene had c.279C>G (p.N93K) missense variant, and family verification analysis showed that the variant was inherited from the mother. A total of 4 patients including proband 1 and family members were diagnosed with MYH9-RD. The proband 2 (female, 1 year old) sought medical attention duo to fever and cough, and the father's physical examination revealed thrombocytopenia. There were 2 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that there was a c.4270G>A (p.D1424N) missense variant in the proband 2 MYH9 gene, and family verification analysis showed that the variant was inherited from the father. A total of 2 patients including proband 2 and his father were diagnosed with MYH9-RD. A total of 99 articles were retrieved, including 32 domestic literatures and 67 foreign literatures. The MYH9-RD cases totaled 149 pedigrees and 197 sporadic patients, including 2 pedigrees in our study. There were 101 cases with complete clinical data, including 62 sporadic cases and 39 pedigrees. There were 56 males and 45 females, with an average age of 6.9 years old. The main clinical manifestations were thrombocytopenia, skin ecchymosis, and epistaxis. Most patients didn't receive special treatment after diagnosis. Six English literatures related to MYH9-RD caused by c.279C>G mutation in MYH9 gene were retrieved. Italy reported the highest number of cases (3 cases). Twelve literatures related to MYH9-RD caused by c.4270G>A mutation in MYH9 gene were retrieved. China reported the highest number of cases (9 cases). Conclusions: The clinical manifestations of patients in the MYH9-RD pedigrees varied greatly. MYH9 gene c.279C>G and c.4270G>A mutations are the cause of MYH9-RD.
Infant ; Humans ; Female ; Male ; Child ; Myosin Heavy Chains/genetics* ; Ecchymosis ; Epistaxis ; Pedigree ; Retrospective Studies ; Muscular Diseases ; Thrombocytopenia ; Cytoskeletal Proteins

Parathyroid adenoma can cause extracapsular bleeding. In 1934, Capps first reported a case of massive hemorrhage secondary to rupture of a parathyroid adenoma. Recently, we experienced a 73-year-old female presented with pharyngeal discomfort and extensive ecchymosis over the neck without history of trauma. Endoscopic investigation revealed submucosal hemorrhage in the posterior wall of the hypopharynx. CT scan and ultrasonography demonstrated the presence of a mass below the left thyroid lobe. Serum calcium level was normal and PTH level was elevated. We underwent left thyroidectomy and parathyroidectomy 2 weeks later from first visit. During the operation, hypopharyngeal mucosa was teared and it was treated with pharyngostoma formation and L-tube feeding. We report a rare case of normocalcemic parathyroid adenoma with spontaneous hemorrhage and propose the proper management period with a literature review
Aged ; Calcium ; Ecchymosis ; Female ; Hematoma ; Hemorrhage ; Humans ; Hypopharynx ; Mucous Membrane ; Neck ; Parathyroid Neoplasms ; Parathyroidectomy ; Rupture ; Tears ; Thyroid Gland ; Thyroidectomy ; Tomography, X-Ray Computed ; Ultrasonography

ObjectiveTo make a preliminary investigation on the safety and efficacy of focused low-intensity extracorporeal shock wave therapy (LI-ESWT) in the treatment of erectile dysfunction (ED).

METHODSWe treated 32 ED patients by focused LI-ESWT with the device of Medispec's ED1000. Before and at 4 and 12 weeks after treatment, we evaluated the erectile function of the patients using the International Index of Erectile Function-erectile function domain (IIEF-EF), Erection Hardness Score (EHS), Sexual Encounter Profile questions 2 and 3 (SEP2 and SEP3), and Global Assessment Questionnaire questions 1 and 2 (GAQ1 and GAQ2), and recorded the incidence rate of adverse events.

RESULTSThe patients averaged 30.69 years of age. Compared with the baseline, the mean IIEF-EF score of the patients was significantly increased at 4 and 12 weeks after LI-ESWT (14.94 vs 20.97 and 21.47, P <0.01), and so were the EHS (1.75 vs 2.66 and 2.56, P <0.01) and the "Yes" answers to SEP2 (21.88% vs 68.75% and 71.88%), SEP3 (0 vs 43.75% and 56.25%), GAQ1 (NA vs 81.25% and 71.88%) and GAQ2 (NA vs 65.63% and 68.75%). The total effectiveness rates at 4 weeks and 12 weeks were 75% and 71.88% respectively. One of the patients felt penile shaft pain with mild ecchymosis after LI-ESWT but was recovered without special treatment a week later.

CONCLUSIONSLI-ESWT can significantly improve the erectile function of ED patients with no obvious adverse effects within 12 weeks after treatment.

Adult ; Double-Blind Method ; Ecchymosis ; etiology ; Erectile Dysfunction ; therapy ; Extracorporeal Shockwave Therapy ; adverse effects ; methods ; Humans ; Male ; Pain, Procedural ; Penile Erection ; physiology ; Surveys and Questionnaires ; Treatment Outcome

ObjectiveTo investigate the clinical effects of circumcision by surgical plane positioning with a disposable circumcision suture device in the treatment of phimosis and redundant prepuce.

METHODSFrom September 2016 to June 2017, we treated 250 patients with phimosis or redundant prepuce, 127 by conventional circumcision (the control group) and the other 123 by surgical plane positioning with a disposable circumcision suture device (the observation group). We compared the operation time, intra-operative bleeding, preputial frenulum alignment, postoperative ecchymosis, and postoperative penile appearance between the two groups of patients.

RESULTSCompared with the controls, the patients in the observation group showed significantly longer operation time (［4.48 ± 1.18］ vs ［7.17 ± 1.42］ min, P<0.05), lower rates of intra-operative frenulum bleeding (15.0% ［19/127］ vs 4.1% ［5/123］, P<0.05) and frenulum misalignment (26.8% ［34/127］ vs 0.8% ［1/123］, P<0.05), higher incidence of postoperative ecchymosis (41.7% ［53/127］ vs 21.1% ［26/123］, P<0.05), and higher satisfaction of the patients with the postoperative penile appearance (92.9% ［18/127］ vs 98.4% ［121/123］, P<0.05). However, no statistically significant difference was found between the control and observation groups in intra-operative non-frenulum bleeding (4.7% ［6/127］ vs 1.6% ［2/123］, P = 0.164).

CONCLUSIONSCircumcision by surgical plane positioning with a disposable circumcision suture device can effectively avoid preputial frenulum misalignment, reduce intra-operative bleeding, and improve postoperative penile appearance.

Circumcision, Male ; instrumentation ; Disposable Equipment ; Ecchymosis ; etiology ; Foreskin ; Humans ; Incidence ; Male ; Operative Time ; Penis ; abnormalities ; surgery ; Personal Satisfaction ; Phimosis ; surgery ; Postoperative Complications ; etiology ; Postoperative Period ; Suture Techniques ; instrumentation

Saphenous vein occlusion with cyanoacrylate is a new technology for the treatment of incompetent veins by endovascular embolization with cyanoacrylate glue. The objective of this review was to evaluate the safety and effectiveness of saphenous vein occlusion with cyanoacrylate. A literature search was conducted using 8 Korean databases, Medline, Embase, and the Cochrane Library. From the 1,730 articles that were initially identified, 8 studies (1 randomized controlled trial, 1 non-randomized controlled trial, and 6 case series/case reports) were included in this review. The results show that similar levels of adverse events or complications occurred in patients treated with cyanoacrylate ablation compared to the other treatment groups (laser ablation or radiofrequency ablation), but the ecchymosis and closure rates of the treated veins were significantly better in the cyanoacrylate ablation group. Improvements in symptoms and quality of life after the treatment were also observed. On the basis of the current data, saphenous vein occlusion with cyanoacrylate can be recommended as a safe and effective treatment for patients with saphenous vein reflux.
Adhesives ; Cyanoacrylates* ; Ecchymosis ; Humans ; Quality of Life ; Saphenous Vein* ; Varicose Veins ; Veins

Prior to the advent of efficacious antimicrobial agents, the mortality rate from cavernous sinus thrombosis (CST) was effectively 100%. There have been very few reports of CST associated with tooth extraction. A 40-year-old female presented to the emergency room with swelling over the right side of the face and history of extraction in the upper right region by an unregistered dental practitioner. The patient presented with diplopia, periorbital ecchymosis, and chemosis of the right eye. A computed tomography scan revealed venous dilatation of the right superior ophthalmic vein. The patient was immediately treated with incision and drainage, intravenous antibiotics, and heparin (low molecular weight). Unfortunately, the patient died two days after surgery due to complications from the disease. CST is a rare disease with a high mortality rate. Therefore, dental health education in rural areas, legal action against unregistered dental practitioners, early diagnosis, and aggressive antibiotic treatment can prevent future mortality resulting from CST.
Adult ; Anti-Bacterial Agents ; Anti-Infective Agents ; Cavernous Sinus Thrombosis* ; Cavernous Sinus* ; Dilatation ; Diplopia ; Drainage ; Early Diagnosis ; Ecchymosis ; Emergency Service, Hospital ; Female ; Health Education, Dental ; Heparin ; Humans ; Mortality ; Rare Diseases ; Tooth Extraction ; Veins

Prior to the advent of efficacious antimicrobial agents, the mortality rate from cavernous sinus thrombosis (CST) was effectively 100%. There have been very few reports of CST associated with tooth extraction. A 40-year-old female presented to the emergency room with swelling over the right side of the face and history of extraction in the upper right region by an unregistered dental practitioner. The patient presented with diplopia, periorbital ecchymosis, and chemosis of the right eye. A computed tomography scan revealed venous dilatation of the right superior ophthalmic vein. The patient was immediately treated with incision and drainage, intravenous antibiotics, and heparin (low molecular weight). Unfortunately, the patient died two days after surgery due to complications from the disease. CST is a rare disease with a high mortality rate. Therefore, dental health education in rural areas, legal action against unregistered dental practitioners, early diagnosis, and aggressive antibiotic treatment can prevent future mortality resulting from CST.
Adult ; Anti-Bacterial Agents ; Anti-Infective Agents ; Cavernous Sinus Thrombosis* ; Cavernous Sinus* ; Dilatation ; Diplopia ; Drainage ; Early Diagnosis ; Ecchymosis ; Emergency Service, Hospital ; Female ; Health Education, Dental ; Heparin ; Humans ; Mortality ; Rare Diseases ; Tooth Extraction ; Veins

Acquired hemophilia A (AHA) is a rare hemorrhagic disorder caused by autoantibodies against factor VIII (FVIII). An 80-year-old woman presented multiple bruises on her upper and lower extremities, along with gross hematuria. Extensive ecchymosis and swelling were observed on the buttocks. She had anemia and normal platelet count. The initial coagulation results showed prolonged activated partial thromboplastin time (aPTT, 68.5 seconds) and normal prothrombin time. According to the mixing test, we observed a decreased FVIII activity (2%), increased factor VIII inhibitor (FVIII-I) titer (74.4 BU), and negative lupus anticoagulant. AHA was diagnosed based on late onset bleeding and increased FVIII-I titer. Additionally, she met the criteria for systemic lupus erythematosus (oral ulcer, photosensitivity, renal disorder, and positivity for antinuclear and anti-β2-glycoprotein-I antibodies). She was started on oral prednisolone for FVIII-I eradication. Post-treatment, her bleeding tendency, aPTT (47.3 seconds), and FVIII-I titer decreased (1.24 BU), and FVIII activity increased (10%).
Aged, 80 and over ; Anemia ; Autoantibodies ; Buttocks ; Contusions ; Ecchymosis ; Factor VIII ; Female ; Hematuria ; Hemophilia A* ; Hemorrhage ; Hemorrhagic Disorders ; Humans ; Lower Extremity ; Lupus Coagulation Inhibitor ; Lupus Erythematosus, Systemic* ; Partial Thromboplastin Time ; Platelet Count ; Prednisolone ; Prothrombin Time ; Ulcer

BACKGROUND AND OBJECTIVES: Osteotomy, usually carried out bilaterally, is a commonly performed procedure to correct the bony dorsum of deviated nose. However, it is an invasive maneuvers which can affect the stability of nasal bone and develop complications, such as, edema and ecchymosis. This study aims to evaluate the usefulness of unilateral osteotomy in correcting a deviated nose with various scoliosis. SUBJECTS AND METHOD: We studied 9 of the 69 patients who underwent corrective rhinoplasty with unilateral osteotomy to correct the bony nasal dorsum between 2010 and 2014. For patients whose bony nasal dorsum was corrected well after performing osteotomy on the convex side of the bony dorsum, the opposite side was not operated on; however, if correction was incomplete, osteotomy was additionally performed on the opposite side. For this study, patients who underwent bilateral osteotomy were excluded from the study. The improvement of correction was assessed by comparing the preoperative and postoperative photos. RESULTS: Of the nine patients treated with unilateral osteotomy, 5 cases were C or reverse C type deviations, 1 case was S type deviation and 3 were straight deviations. Five of the nine patients improved greatly and the rest improved significantly. None of the patients experienced worsening change postoperatively. CONCLUSION: Osteotomy is essential but invasive maneuver, so it is desirable to reduce the number of times to execute. By performing osteotomy on the convex side of the nose first, we can correct the deviated nose effectively while reducing the number of implementation.
Ecchymosis ; Edema ; Humans ; Methods ; Nasal Bone ; Nose* ; Osteotomy* ; Rhinoplasty ; Scoliosis

In critically ill patients, disseminated intravascular coagulation (DIC) is a common and fatal hematological disorder. DIC is a physiological response to a variety of underlying stimuli that provoke generalized activation of the hemostatic mechanism and is common in septic patients and those with hematological or non-hematological malignant neoplasms. Bleeding is a common clinical feature, and diffuse or multiple-site mucocutaneous bleeding, such as petechia, ecchymosis and hemorrhage from gastrointestinal tract, is often seen. A 58-year-old male was recently diagnosed with intracranial hemorrhage (ICH) caused by DIC associated with sepsis. Mortality of ICH caused by DIC is very high because the underlying condition cannot be quickly treated. Awareness of the possibility of DIC developing in a critically ill patient and the need for immediate initiation of plasma or platelet replacement therapy are important. To the best of our knowledge, this is the first reported case of intracranial hemorrhage in a Korean patient with DIC associated with sepsis.
Blood Platelets ; Critical Illness ; Dacarbazine ; Disseminated Intravascular Coagulation* ; Ecchymosis ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Intracranial Hemorrhages* ; Male ; Middle Aged ; Mortality ; Plasma ; Sepsis*