Conservative management of a complex ovarian cyst in a case of Glanzmann’s thrombasthenia

Complex ovarian cyst has many causes one of them being haemorrhagic cyst. Most of the haemorrhagic ovarian cyst present as an emergency, detailed clinical history is important before deciding the management. Reporting an interesting case of conservative management in a young patient of reproductive age group with variant Glanzmann’s Thrombasthenia which led to a very large ovarian haemorrhagic cyst and presented as a case of torsion of the ovarian cyst. This case highlights the importance of thorough history taking and evaluation prior to embarking on surgical interference in such cases of coagulation disorders. Glanzmann's thrombasthenia (GT) is a genetic disorder which is characterized by a defect in platelet aggregation resulting in bleeding due to absence or dysfunction of the platelet glycoprotein IIb/IIIa complex. It is a rare genetic disorder that follows autosomal recessive type of inheritance

Conservative management of a complex ovarian cyst in a case of Glanzmann's thrombasthenia

Complex ovarian cyst has many causes one of them being haemorrhagic cyst. Most of the haemorrhagic ovarian cyst present as an emergency, detailed clinical history is important before deciding the management. Reporting an interesting case of conservative management in a young patient of reproductive age group with variant Glanzmann’s Thrombasthenia which led to a very large ovarian haemorrhagic cyst and presented as a case of torsion of the ovarian cyst. This case highlights the importance of thorough history taking and evaluation prior to embarking on surgical interference in such cases of coagulation disorders. Glanzmann's thrombasthenia (GT) is a genetic disorder which is characterized by a defect in platelet aggregation resulting in bleeding due to absence or dysfunction of the platelet glycoprotein IIb/IIIa complex. It is a rare genetic disorder that follows autosomal recessive type of inheritance

Evolution of BCR/ABL gene mutation in CML is time dependent and dependent on the pressure exerted by tyrosine kinase inhibitor.

BACKGROUND: Mutations in the ABL kinase domain and SH3-SH2 domain of the BCR/ABL gene and amplification of the Philadelphia chromosome are the two important BCR/ABL dependent mechanisms of imatinib resistance. Here, we intended to study the role played by TKI, imatinib, in selection of gene mutations and development of chromosomal abnormalities in Indian CML patients. METHODS: Direct sequencing methodology was employed to detect mutations and conventional cytogenetics was done to identify Philadelphia duplication. RESULTS: Among the different mechanisms of imatinib resistance, kinase domain mutations (39%) of the BCR/ABL gene were seen to be more prevalent, followed by mutations in the SH3-SH2 domain (4%) and then BCR/ABL amplification with the least frequency (1%). The median duration of occurrence of mutation was significantly shorter for patients with front line imatinib than those pre-treated with hydroxyurea. Patients with high Sokal score (p = 0.003) showed significantly higher incidence of mutations, as compared to patients with low/intermediate score. Impact of mutations on the clinical outcome in AP and BC was observed to be insignificant. Of the 94 imatinib resistant patients, only 1 patient exhibited duplication of Philadelphia chromosome, suggesting a less frequent occurrence of this abnormality in Indian CML patients. CONCLUSION: Close monitoring at regular intervals and proper analysis of the disease resistance would facilitate early detection of resistance and thus aid in the selection of the most appropriate therapy

Wiskott-Aldrich Syndrome Presenting with JMML-Like Blood Picture and Normal Sized Platelets

Objective. The aim of this paper is to report the case of Wiskott-Aldrich syndrome (WAS) that presented with unusual laboratory features. Clinical Presentation and Intervention. Male neonate admitted with symptoms related to thrombocytopenia, whose initial diagnosis was considered as neonatal alloimmune thrombocytopenia and JMML (juvenile myelomonocytic leukemia) but subsequently diagnosis was confirmed as WAS. Conclusion. This case shows that a suspicion of WAS is warranted in the setting of neonatal thrombocytopenia with JMML-like blood picture and normal sized platelets

Bar graph shows the distribution of IM resistant CML patients according to the first line treatment and the total count at the time of diagnosis.

<p>As the WBC count increases, the difference between the lengths of the blue and the red bars increases to a greater extent as compared to the difference in lengths between the green and violet bars, indicating less number of mutations in patients pre-treated with a non-TKI (HU) as compared to the patients with first line imatinib.</p

Diagram illustrating gradual disappearance of T315I mutation with hydroxyurea and spleenic irradiation treatment.

<p>Diagram illustrating gradual disappearance of T315I mutation with hydroxyurea and spleenic irradiation treatment.</p

Kaplan-Meier survival curves according to the mutations and the disease phase.

<p>Group 1: Chronic Phase (P-Loop); Group 2: Chronic Phase (non P-Loop); Group 3: Accelerated Phase (P-Loop); Group 4: Accelerated Phase (non P-Loop); Group 5: Blast Crisis (P-Loop); Group 6: Blast Crisis (non P-Loop).</p

Spectrum of mutations in the ABL KD and SH3-SH2 domain of BCR/ABL gene according to the disease phase.

<p>* Novel mutations detected</p><p>Spectrum of mutations in the ABL KD and SH3-SH2 domain of BCR/ABL gene according to the disease phase.</p

Electropherogram showing the insertion mutation ΔCAGG at 303^th amino acid position between P-loop and gatekeeper region.

<p>Electropherogram showing the insertion mutation ΔCAGG at 303^th amino acid position between P-loop and gatekeeper region.</p

Distribution of the patients according to their haematologic and cytogenetic response at the time of disease resistance.

<p>Frequency of mutations in patients with Haematologic resistance: 31/50 (62%)</p><p>Frequency of mutations in patients with cytogenetic resistance: 39/91 (43%)</p><p>CP: Chronic Phase</p><p>AP: Accelerated Phase</p><p>BC: Blast Crisis</p><p>CHR: complete Haematologic Response</p><p>CCyR: Complete Cytogenetic Response</p><p>n: Number of patients with mutations</p><p>N: Number of imatinib resistant patients</p><p>Distribution of the patients according to their haematologic and cytogenetic response at the time of disease resistance.</p