Impact of ABO blood group antigens on residual factor VIII levels and risk of inhibitor development in hemophilia A

Background@#The clinical phenotype of hemophilia A (HA) does not always correlate with severity.Similarly, the presence of inhibitors does not necessarily increase the risk of bleeding.This paradox between clinical and laboratory findings may be partially attributed to non-modifiable factors, such as blood group, which is known to influence FVIII levels in healthy individuals. Our aim was to assess the effect of ABO blood group antigens on FVIII levels across the severity spectrum of HA and risk of inhibitor development. @*Methods@#Data of consecutive patients with HA who visited the coagulation unit of a northern Indian tertiary care hospital between 2010‒2021 were reviewed. Patients with missing blood group data, transfusion histories, or baseline FVIII levels were excluded. @*Results@#Mild, moderate, and severe HA was present in 41 (6.9%), 72 (12.2%), and 479 (80.9%) patients, respectively. There were no differences in the FVIII levels among the various blood groups across the HA severity spectrum. Inhibitors were administered to 35 patients (5.9%). In the multivariate analysis, blood group A was an independent risk factor for the development of inhibitors (adjusted odds ratio 2.70, P =0.04) after adjusting for age at onset of bleeding, FVIII transfusion, age at first FVIII transfusion, and severity of HA. @*Conclusion@#Unlike what is observed in healthy individuals, blood group did not influence residual FVIII levels across the severity spectrum of HA. Patients in group A had a higher risk of developing inhibitors.

A comparative study between light transmission aggregometry and flow cytometric platelet aggregation test for the identification of platelet function defects in patients with bleeding

Background@#Platelet aggregation studies using conventional light transmission aggregometry (LTA) have several disadvantages and require strict pre-analytical measures for reliable results.We aimed to examine the utility of flow cytometric platelet aggregation (FCA) assay in detecting platelet function defects (PFDs) in patients with a history of bleeding symptoms. @*Methods@#Sixty-four participants (24 patients and 40 healthy controls) were included in this study.LTA and FCA assay were performed simultaneously in patients and healthy controls. In the FCA assay, two portions of platelets from the same individual were labeled separately with CD31-FITC and CD31-PE. After mixing and stimulation with agonists, the double-colored platelet aggregates were visualized using a flow cytometer. The results generated using the two techniques were compared and correlated. @*Results@#The patients’ median age was 17 years (range, 3‒72 yr) with a male-to-female ratio of 1:1.7. There was substantial agreement between LTA and FCA assay in detecting a PFD (κ=0.792). Four patients showing a Glanzmann thrombasthenia-like pattern on LTA exhibited an abnormal FCA. A functional defect in collagen binding was detected on the FCA assay conducted in two immune thrombocytopenic patients with severe bleeding. @*Conclusion@#FCA assay can be used to identify functional defects in platelets, with potential applications in thrombocytopenic individuals. It also facilitates the diagnosis of inherited bleeding disorders with platelet defects.

A comparative study between light transmission aggregometry and flow cytometric platelet aggregation test for the identification of platelet function defects in patients with bleeding

Background@#Platelet aggregation studies using conventional light transmission aggregometry (LTA) have several disadvantages and require strict pre-analytical measures for reliable results.We aimed to examine the utility of flow cytometric platelet aggregation (FCA) assay in detecting platelet function defects (PFDs) in patients with a history of bleeding symptoms. @*Methods@#Sixty-four participants (24 patients and 40 healthy controls) were included in this study.LTA and FCA assay were performed simultaneously in patients and healthy controls. In the FCA assay, two portions of platelets from the same individual were labeled separately with CD31-FITC and CD31-PE. After mixing and stimulation with agonists, the double-colored platelet aggregates were visualized using a flow cytometer. The results generated using the two techniques were compared and correlated. @*Results@#The patients’ median age was 17 years (range, 3‒72 yr) with a male-to-female ratio of 1:1.7. There was substantial agreement between LTA and FCA assay in detecting a PFD (κ=0.792). Four patients showing a Glanzmann thrombasthenia-like pattern on LTA exhibited an abnormal FCA. A functional defect in collagen binding was detected on the FCA assay conducted in two immune thrombocytopenic patients with severe bleeding. @*Conclusion@#FCA assay can be used to identify functional defects in platelets, with potential applications in thrombocytopenic individuals. It also facilitates the diagnosis of inherited bleeding disorders with platelet defects.

A Case Report Of Synchronous Primary Malignancy: Papillary Thyroid Carcinoma And Non-Hodgkin’s Lymphoma

Multiple primary malignancies involving papillary thyroid carcinoma and non-Hodgkin’s lymphoma (NHL) is an extremely unusual event. Here, we report the case of a 70-year-old man presented with high-grade fevers and abdominal discomfort and were found to have pancytopenia. He had generalized lymphadenopathy, hepatosplenomegaly, goiter, and tracheal shift. Biopsy of the left cervical lymph node was positive for papillary carcinoma of the thyroid. He underwent excision biopsy of axillary lymph node which was suggestive of high-grade NHL. The patient was started on chemotherapy (R-CHOP) and his fevers resolved promptly. He then underwent total thyroidectomy and the histopathology of the thyroid gland post-operative showed papillary carcinoma. The second primary malignancy is a second malignant neoplasm occurring in a patient with known cancer. This case highlights the unusual synchronous occurrence of the papillary carcinoma of thyroid and NHL and the diagnostic challenges involved in such cases.

Lipemic Sample: Is It Worth Our Attention?

A 27-year-old male presented to the emergency room with abdominal pain and vomiting. While investigating, the blood sample collected was densely lipemic and repeatedly rejected by the analyzer. On deliberation, the sample was subjected to dilution and results showed hyperglycemia, hypertriglyceridemia (HTG) (>4000 mg/dL), and hyperamylasemia. Acute pancreatitis (AP) was confirmed on computed tomography scan of the abdomen. Lipemic sample while investigating abdominal pain in either pregnant women or patients with diabetes mellitus, hormone disorders, or chronic alcoholism, must prompt the diagnosis of AP (HTG induced pancreatitis). The laboratory should be aware of sample artifacts and efforts should be taken to convey the findings (both physical and biochemical) to the clinician. This case stresses the need for good communication between treating clinical and diagnostic faculties

Multifocal large aggregates of pseudo-Gaucher cells in chronic myeloid leukemia

No abstract available.

The first case report of a patient with coexisting hemophilia B and Down syndrome

No abstract available.

Basophilia and megakaryoblastic differentiation in a case of acute myeloid leukemia: An unusual morphological combination

Basophilia is commonly associated with chronic myelogenous leukemia, notably in the accelerated phase or during blast crisis. It is also associated with other myeloproliferative neoplasms. However, its association with acute leukemia is very rare and is described in association with acute basophilic leukemia and few acute myeloid leukemias [AMLs] with recurrent genetic abnormalities such as t[6;9][p23;q34]. Herein, we describe the morphological features and discuss the differential diagnosis of a case of AML with the blasts showing previously unreported unusual combination of megakaryoblastic and basophilic differentiation along with peripheral blood and bone marrow basophilia

A case of histoplasmosis in a patient with MDS/MPN-U

No abstract available.

Plasma cell leukemia in North India: retrospective analysis of a distinct clinicohematological entity from a tertiary care center and review of literature

BACKGROUND: Plasma cell leukemia (PCL) is a rare and aggressive plasma cell neoplasm. In PCL, clonal plasma cells comprise ≥20% of the peripheral blood (PB) leukocytes and/or the absolute clonal PB plasma cell count is ≥2×10(9)/L. Primary PCL (PPCL) originates de novo, whereas, secondary PCL (SPCL) evolves from pre-existing multiple myeloma. METHODS: Clinicohematological features, immunophenotypic profile, and survival of PCL patients were analyzed retrospectively. RESULTS: Between January 2007 and December 2014, ten PPCL and four SPCL patients were investigated (8 PPCLs and 3 SPCLs had complete clinical data). All were North Indians, sharing common geography and ethnicity. Our cohort showed less frequent renal failure, more frequent hepatomegaly, and non-secretory type disease. In contrast to western literature, flow cytometric immunophenotyping of our cohort revealed altered expression of CD138 (67%), CD56 (33%), and CD20 (0%). With novel therapeutic agents, these PPCL patients had a median overall survival of 15 months. CONCLUSION: We highlight that our PPCL patients from North India had distinct clinicohematological and immunophenotypic profiles. The significance of our findings must be tested in a larger patient cohort and must be supported by molecular and cytogenetic investigations to unmask possible significant effects on pathogenesis.

Evaluation of the Behavior of Spinal Deformities in Tuberculosis of the Spine in Adults

STUDY DESIGN: A prospective clinical study. PURPOSE: The objective of the present study was to evaluate the behavior of spinal deformities in tuberculosis (TB) of the spine during the initial 2 years and to suggest remedial measures. OVERVIEW OF LITERATURE: Spinal TB is the most common cause of a kyphotic deformity in many parts of the world. Treatment of the established deformity is difficult, hazardous and has a high complication rate. METHODS: We followed 50 adult patients treated for spinal TB for a minimum of 2 years. Average values of vertebral body height loss (VBL), deformity angle, kyphosis angle, and lumbosacral joint angle at the final follow-up were compared with the values at initial presentation. The relationship between the amount of initial VBL and final kyphotic angle was analyzed. RESULTS: Average values of VBL, deformity angle, kyphosis angle, and lumbosacral joint angle at initial presentation were 0.26, 12.51degrees, 2.26degrees, and 12.3degrees, respectively; and the corresponding values at the final follow-up were 0.7, 17.8degrees, 5.64degrees, and 10.8degrees, respectively. The increase was extremely significant for the deformity angle (initial vs. 6th month, p=0.000; 6th month vs. 24th month, p=0.000) and kyphotic angle (initial vs. 6th month, p=0.003; 6th month vs. 24th month, p=0.000) in the thoracic and thoracolumbar regions during the first 2 years of the disease process. The increase in the deformity angle in the lumbar region was significant only in the initial 6 months (p=0.01). We could not find any correlation between the initial VBL and the final kyphotic angle (r=0.302, p>0.05). CONCLUSIONS: Different regions of the vertebral column respond differently to bony destruction caused by spinal TB. Deformity progression is more significant during the initial 6 months of the disease process, and this may be the best time to take remedial measures to prevent development/progression of the deformity. Kyphotic deformity keeps increasing even after 6 months of antituberculous treatment, and it does not correlate with the initial VBL in adults.

Inherited thrombophilia profile in patients with recurrent miscarriages: Experience from a tertiary care center in north India

The cause of recurrent miscarriage (RM) remains unexplained in approximately 30% to 50% cases. The association of inherited thrombotic factors and RM patients has not been documented from the northern part of India. A total of 40 patients had been investigated for inherited thrombophilia workup (protein C, protein S [PS], antithrombin III, and factor V Leiden [FVL] mutation) over a period of 10 years (2005 to 2014). RM patients were divided in to three groups. Group I (only 1st trimester loss), group II (only 2nd and 3rd trimester), and group III (mixed). Each group comprised of the following numbers of patients respectively: I, 24; II, 2; III, 14. Heterozygous FVL mutation was found in 10% (4/40) cases. PS deficiency was detected in 2.7% (1/37) cases. In the present study FVL and PS were seems to be associated with a subset of patients however further studies with larger numbers of patients are recommended for better evaluation.

Outcome of Pedicle Screw Fixation and Monosegmental Fusion in Patients with Fresh Thoracolumbar Fractures

STUDY DESIGN: Prospective clinical study. PURPOSE: The present prospective study aims to evaluate the clinical, radiological, and functional and quality of life outcomes in patients with fresh thoracolumbar fractures managed by posterior instrumentation of the spine, using pedicle screw fixation and monosegmental fusion. OVERVIEW OF LITERATURE: The goals of treatment in thoracolumbar fractures are restoring vertebral column stability and obtaining spinal canal decompression, leading to early mobilization of the patient. METHODS: Sixty-six patients (46 males and 20 females) of thoracolumbar fractures with neurological deficit were stabilized with pedicle screw fixation and monosegmental fusion. Clinical, radiological and functional outcomes were evaluated. RESULTS: The mean preoperative values of Sagittal index, and compression percentage of the height of the fractured vertebra were 22.75degrees and 46.73, respectively, improved (statistically significant) to 12.39degrees, and 24.91, postoperatively. The loss of correction of these values at one year follow-up was not statistically significant. The mean preoperative canal compromise (%) improved from 65.22+/-17.61 to 10.06+/-5.31 at one year follow-up. There was a mean improvement in the grade of 1.03 in neurological status from the preoperative to final follow-up at one year. Average Denis work scale index was 4.1. Average Denis pain scale index was 2.5. Average WHOQOL-BREF showed reduced quality of life in these patients. Patients of early surgery group (operated within 7 days of injury) had a greater mean improvement of neurological grade, radiological and functional outcomes than those in the late surgery group, but it was not statistically significant. CONCLUSIONS: Posterior surgical instrumentation using pedicle screws with posterolateral fusion is safe, reliable and effective method in the management of fresh thoracolumbar fractures. Fusion helps to decrease the postoperative correction loss of radiological parameters. There is no correlation between radiographic corrections achieved for deformities and functional outcome and quality of life post spinal cord injury.

Double floating arm injury in a child: a case report and review of the literature / 中华创伤杂志(英文版)

The combination of ipsilateral humeral fractures at three different levels namely proximal, shaft and supracondyle has been rarely defined in the literature. We present a case report on such a complex injury in a 10-year-old child after falling down from the second floor of his house while playing. To the best of our knowledge, no such case report exists in the English literature. We define it as double floating arm injury. Firstly, shaft of humerus was open reduced and fixed with 4.5 mm narrow dynamic compression plate. Then closed reduction and pinning of the supracondylar humerus under an image intensifier was obtained. Open reduction using deltopectoral approach to the proximal humerus was done and the fracture was fixed with three K-wires. Ipsilateral multiple fractures in children often result from high energy trauma. Immediate reduction and fixation is required. Usually surgeons need to treat simple fractures firstly, which makes the subsequent treatment of complex fractures easier.

Combined radial and median nerve injury in diaphyseal fracture of humerus: a case report / 中华创伤杂志(英文版)

Radial nerve palsy is the most common neurological involvement in humeral shaft fractures. But combined radial and median nerve injury in a closed diaphyseal fracture of the humerus is rare. Combined injury to both radial and median nerve can cause significant disability. A detailed clinical examination is therefore necessary following humeral shaft fractures. We report a patient with closed diaphyseal humeral fracture (AO 12A-2.3) together with radial and median nerve palsy, its management and review of the literature. As the patient had two nerves involved, surgical exploration was planned. Fracture was reduced and fixed with a 4.5 mm narrow dynamic compression plate. There was no external injury to both radial and median nerves on surgical exploration. Neurological recovery started at 3 weeks' follow-up. Complete recovery was seen at 12 weeks. Careful clinical examination is of the utmost importance in early diagnosis of combined nerve injuries, which allows better management and rehabilitation of the patient.

Morphometric Measurements of Cadaveric Thoracic Spine in Indian Population and Its Clinical Applications

STUDY DESIGN: Analysis of morphometric data obtained from direct measurements of 100 cadaveric thoracic spines in Indian population. PURPOSE: To collect a base line morphometric data and analyze it in reference to the musculoskeletal anatomy and biomechanics of the spine; implants and instrumentations; and to suggest the requisite modification in spinal surgery instrumentations. OVERVIEW OF LITERATURE: Most of the previous studies in the world literature have focused primarily on the parameters of the pedicle and to the authors' knowledge; no study has been published from the Indian subcontinent reporting a detailed morphometry of the thoracic spine. METHODS: One thousand and two hundred thoracic vertebrae were studied by direct measurements for linear and angular dimensions of the vertebral body, spinal canal, pedicle, and spinous and transverse processes in 100 human cadavers. RESULTS: Thirty-five point five percent of all the pedicles; 71% of T5 pedicles; 54.6% of all the female pedicles; and 94.4% of the T5 pedicles in females were smaller than 5 mm in mid-pedicle width dimension. Transverse pedicle angle was more at all levels and pedicles were sagittaly angulated in cephalad direction in comparison to other studies. Minimum value of interpedicular distance was at T5 (15.48 +/- 1.24). Vertebral body width showed slight decrease from T1 to T4. The transverse process length was relatively constant between T2 to T10. The spinous process angle showed increasing trend from T1 to T6 and then gradually decreased to T12. CONCLUSIONS: Most of the trends in changes of the parameters from T1 to T12 can be explained on the basis of local musculoskeletal anatomy and biomechanical stresses. The smallest diameter screw and shortest available screw for adults may not be safe in majority of the Indian population in mid-thoracic region. The results of the present study can help in designing implants and instrumentations; understanding spine pathologies; and management of spinal disorders in this part of the world.

Intra-operative migration of dynamic hip screw into the pelvis

The authors report a rare per-operative compilation of intra-pelvic migration of dynamic hip screw, during osteosynthesis of an inter-trochanteric fracture. Possible reasons of migration are analyzed along with the importance of careful execution of the surgical technique to avoid such iatrogenic and medico-legal implications