Plasma and platelet beta-thromboglobulin levels in patients with May-Hegglin anomaly

Plasmatic beta-thromboglobulin (BTG) has been assayed in 5 patients with May-Hegglin anomaly. All patients showed a normal BTG plasmatic level. The plasma BTG/number of platelets ratio resulted to be elevated but this was due to the low platelet count typical of the disease. The platelet content in BTG was studied in only 2 patients and was found to be four times the normal value; however, the circulating BTG platelet mass in these patients resulted to be within normal limits.     

Platelet membrane studies in the May-Hegglin anomaly

Since studies of the giant platelets in the Bernard-Soulier syndrome have shown decreased electrophoretic mobility, decreased sialic acid, and an abnormality in a membrane glycoprotein, we performed similar studies on the giant platelets from two patients with the May-Hegglin anomaly. The patients' platelet electrophoretic mobilities did not differ from control. Although the total sialic acid contents of the patients' platelets were greater than control when calculated per platelet, they were very similar to control when normalized for differences in platelet volume and surface area. When platelet proteins were separated by sodium dodecyl sulfate polyacrylamide gel electrophoresis there were no differences between the glycoproteins of control and patient platelets as judged by the patterns of periodic acid Schiff staining and fluorescein-labeled concanavalin A binding. Similarly, patterns of surface glycoprotein labeling by neuraminidase/galactose oxidase/KB3H4 were identical. We conclude that unlike the giant platelets in the Bernard-Soulier syndrome, those of the May-Hegglin anomaly are not associated with a membrane abnormality detectable by these techniques.     

Sebastian platelet syndrome: two Japanese families originally diagnosed with May-Hegglin anomaly

Ultrastructural studies of granulocytes were performed on two unrelated patients with hereditary thrombocytopenia, giant platelets, and inclusion bodies in granulocytes. Each patient had been diagnosed with May-Hegglin anomaly. In both cases, inclusion bodies in granulocytes consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum. Additional clinical features suggesting Alport syndrome were lacking in these propositi and their family members. These observations imply that the patients were affected not with May-Hegglin anomaly but with Sebastian platelet syndrome. They would thus represent the seventh and eighth families known to carry this hereditary disease.     

Familial case of May-Hegglin anomaly associated with familial spastic paraplegia

We report a family with May-Hegglin anomaly associated with familial spastic paraplegia. The propositus was a 39 year old male. His peripheral blood showed a D?hle-like inclusion bodies in WBC, giant platelets, and thrombocytopenia. He had been suffering from progressive gait disturbance of spastic paraplegia since 20 years old. He was in a state of chronic renal failure and showed sensory hearing impairment. His two children showed similar hematological abnormalities and spastic gait. As far as we know, this is the first case of May-Hegglin anomaly associated with familial spastic paraplegia in the literature.     

Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy

May-Hegglin anomaly (MHA) is a rare type of autosomal dominant platelet disorder associated with mutations in the gene encoding nonmuscle myosin heavy chain 9 (MYH9). It is characterized by the presence of large platelets, leukocyte inclusions, and thrombocytopenia. The bleeding tendency is usually mild, but severe hemorrhages have been reported. This is the first reported case of a patient with MHA who underwent craniotomy for intractable seizure disorder of temporal lobe origin. Patients who have thrombocytopenia have a higher likelihood of developing intraoperative or postoperative intracranial hematoma and bleeding complications. The patient was administered desmopressin (DDAVP) prior to the neurosurgical procedure and had no complications. With this approach, the use of platelet concentrates could be avoided. We discuss the role of DDAVP in MHA and related platelet disorders and review the current literature.     

Massive platelet transfusion after splenectomy in a case of myelofibrosis

A patient with myelofibrosis complicated by massive splenomegaly underwent splenectomy to alleviate the increasing transfusion requirements and iron overload. The platelets exhibited qualitative defects pre-operatively. Following splenectomy the patient bled profusely and required massive blood and platelet transfusions. The postoperative haemorrhage was controlled by giving sufficient platelets to normalize the platelet aggregation.     

Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure.

We present two cases of May-Hegglin anomaly incidentally discovered in a patient and his brother during investigation of the patient for end-stage renal failure and workup for renal transplantation. Routine laboratory tests were performed and included a basically normal clotting profile. Ultrastructural studies of the May-Hegglin inclusions proved diagnostic, findings were compared with those of two similar granulocyte inclusion bodies, and nomenclature discrepancies that still exist in most references are again emphasized. The finding of the May-Hegglin anomaly in our patient appears to be incidental to the underlying renal disease. A successful renal transplant has been carried out in this patient. We now report on a patient and his brother in which the MHA was discovered during workup of the patient for end-stage renal failure and renal transplantation. No association between the underlying renal disease and the MHA could be demonstrated.     

Successful management of severe allergic reactions to platelet transfusion with omalizumab: A case report

Rationale:An allergic transfusion reaction is a common side effect of transfusions of red blood cells. Using washed red blood cells is the most effective method for preventing such a reaction. However, the availability of other washed transfusion components, including platelets, is limited.Patient concerns:A 69-year-old patient with acute myeloid leukemia progressed from myelodysplastic syndrome and was treated with azacitidine. She experienced a minor reaction to platelet transfusion that initially responded to the administration of corticosteroids and antihistamines. However, she worsened even after subsequent preventive treatments and was referred to the emergency department due to anaphylaxis. The patient developed hypotension, chest pain, and dyspnea 10 minutes after the initiation of platelet transfusion.Diagnoses:She was diagnosed with platelet-induced anaphylaxis.Interventions:In an attempt to prevent anaphylaxis, 150 mg of omalizumab was prescribed 1 week prior to transfusion. However, she experienced anaphylaxis again and was administered intramuscular epinephrine. For the following transfusion, we treated her with a 300 mg dose of omalizumab 24 hours before the transfusion.Outcomes:She tolerated well and continued to receive further chemotherapy and platelet transfusion with premedication.Lessons:This case suggests that omalizumab is a good candidate for the management of severe allergic transfusion reactions.     

The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway

The gene implicated in the May-Hegglin anomaly and related macrothrombocytopenias, MYH9, encodes myosin-IIA, a protein that enables morphogenesis in diverse cell types. Defective myosin-IIA complexes are presumed to perturb megakaryocyte (MK) differentiation or generation of proplatelets. We observed that Myh9(-/-) mouse embryonic stem (ES) cells differentiate into MKs that are fully capable of proplatelet formation (PPF). In contrast, elevation of myosin-IIA activity, by exogenous expression or by mimicking constitutive phosphorylation of its regulatory myosin light chain (MLC), significantly attenuates PPF. This effect occurs only in the presence of myosin-IIA and implies that myosin-IIA influences thrombopoiesis negatively. MLC phosphorylation in MKs is regulated by Rho-associated kinase (ROCK), and consistent with our model, ROCK inhibition enhances PPF. Conversely, expression of AV14, a constitutive form of the ROCK activator Rho, blocks PPF, and this effect is rescued by simultaneous expression of a dominant inhibitory MLC form. Hematopoietic transplantation studies in mice confirm that interference with the putative Rho-ROCK-myosin-IIA pathway selectively decreases the number of circulating platelets. Our studies unveil a key regulatory pathway for platelet biogenesis and hint at Sdf-1/CXCL12 as one possible extracellular mediator. The unexpected mechanism for Myh9-associated thrombocytopenia may lead to new molecular approaches to manipulate thrombopoiesis.     

丙型肝炎肝硬化患者部分脾栓塞及脾切除术后成功抗病毒治疗1例报告

<正>1病例资料患者女性,59岁。既往史:24年前因"异位妊娠"行手术治疗,术中输血。后因"间断牙龈出血6年"就诊。患者6年前出现牙龈出血,未治疗。4年前检查血小板(PLT)波动于(14~40)×109/L,白细胞(WBC)3.0×109/L。行骨髓穿刺示:巨核细胞成熟障碍。处理:(1)未明确诊断;(2)输注PLT。进一步检查:(1)除外白血病等;(2)抗HCV阳性、HCV RNA     

Ebstein's anomaly and pregnancy: a case report.

Ebstein's anomaly, an uncommon malformation of the tricuspid valve, has an extremely variable natural history, depending on a wide spectrum of pathological features. We here described a case of a patient with Ebstein's anomaly who gave birth to 2 healthy unaffected full-term infants after two successful pregnancies; a third pregnancy miscarried at the 11th week. The anomaly was diagnosed during childhood, was not associated with other cardiac anomalies, cyanosis or preexcitation and the echocardiographic degree of severity was low (grade 1). All of these factors are considered predictors of a good survival and prognosis. During the pregnancies, no arrhythmias, cyanosis or signs of cardiac failure were observed and the patient's NYHA functional class (1) remained unchanged. Our case is the only published case of two successful term pregnancies in Ebstein's anomaly, it confirms the importance of echocardiographic evaluation and that the probability of maternal and neonatal events may be predicted from the baseline characteristics of the mother. Pregnancy is well tolerated in the absence of important maternal cardiomegaly, cyanosis and arrhythmias and in those patients with mild cardiac dysfunction as evaluated at echocardiography and a low NYHA class, but it is associated with an increased risk of abortions and prematurity.     

Successful treatment of SAPHO syndrome with adalimumab: a case report

SAPHO syndrome is a disorder involving the skin, bone and joints. The underlying causes of SAPHO are poorly understood, and treatment is, therefore, directed towards the individual symptoms. However, many patients are refractory to treatment, and new treatment options are needed. Herein, we describe a 28-year-old patient with SAPHO syndrome and palmoplantar pustulosis seen at our hospital. Treatment was initiated with non-steroidal anti-inflammatory drugs, but clinical improvement was poor. The addition of sulfasalazine and oral alendronate also failed to alleviate symptoms. We subsequently commenced treatment with adalimumab 40 mg every 15 days and suspended bisphosphonates. Following 4 weeks’ treatment with adalimumab, there was clear articular improvement and disappearance of palmoplantar pustulous lesions. Nocturnal inflammatory lumbar pain and global disease assessment were also improved. To our knowledge, this is the first report on the use of adalimumab for SAPHO. More studies are required to confirm our findings.     

Pulmonary vein atresia with Shone's anomaly in an infant: a case report

We report a case of individual pulmonary vein atresia associated with multiple levels of left heart obstruction, including aortic coarctation, valvular aortic stenosis, and parachute mitral valves with stenosis. The diagnosis of pulmonary vein obstruction is likely to be missed in patients who also have other left heart obstructive diseases, since the latter usually dominates the clinical presentation. We diagnosed the existence of individual pulmonary vein atresia preoperatively via cardiac catheterization. The pulmonary artery angiograms revealed back and forth motion of the dye with no visualization of either a capillary or venous phase on the lesion side. The pulmonary capillary wedge pressure was unevenly elevated and highest on the lesion side. The results were later confirmed by operation and autopsy. Thus, selective pulmonary artery catheterization and angiography remains a good diagnostic tool to rule out the existence of pulmonary vein obstruction in cases which have multiple levels of left heart obstruction.