Partial hydatidiform moles with unclear histopathological profile - importance of genetic diagnostics.

OBJECTIVE: The aim of the study was the genetic characterization of a set of cases with an unclear morphological profile of the placental tissue suspected of a partial hydatidiform mole. PATIENTS AND METHODS: This work presents the results of a genetic analysis of a group of 10 patients with various clinical manifestations of reproductive loss, where a partial hydatidiform mole was suspected on the basis of a histopathological examination. The composition of the genome of the products of conception was determined by short tandem repeats (STR) genotyping using a commercial kit;Devyser Compact v3 (Devyser). RESULTS AND CONCLUSIONS: Out of 10 analyzed cases, five had diandric monogynic triploid genome, characteristic for a partial mole. Aneuploidies of chromosomes 13, 18, 21, X and Y were excluded in four cases and Pataus syndrome was dia-gnosed in one case. In the case of an unclear histopathological profile, consultative DNA analysis (ideally STR genotyping) can significantly help the pathologist in the differential dia-gnosis of a partial mole. The histopathological profile of a partial hydatidiform mole may be in some cases incomplete and unclear, especially in the early weeks of gestation, which can lead to false negativity of the examination. On the other hand, other pathologies, for example aneuploides or digynic triploidy, may produce a histopathological profile similar to a partial mole, which leads to false positivity. Accurate dia-gnosis of a partial hydatidiform mole using molecular genetic methods contributes to the determination of adequate dispensary care for patients.

Ibrutinib treatment of mantle cell lymphoma complicated by progressive multifocal leukoencephalopathy
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OBJECTIVE: Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease of the central nervous system, caused by reactivation of John Cunningham polyomavirus, affecting mainly patients in an immunocompromised state. Recently, drug-associated PML is gaining attention as more cases of PML in connection with the use of various immunomodulatory drugs emerge. Over the last couple of years, sporadic reports have occurred about a possible association between PML and the use of a new immunomodulatory drug, ibrutinib (Imbruvica), primarily indicated for the treatment of various B-cell malignancies. CASE REPORT: Herein, we report a case of a 62-year-old female patient with bilateral mantle cell lymphoma of conjunctiva diagnosed at IVA clinical stage (according to the Ann Arbor staging of lymphomas) of the disease. As a first line of treatment, the patient was given 6 cycles of rituximab-based chemotherapy followed by a complete remission. Seven years later, the patient relapsed, at which point the treatment with ibrutinib was initiated. Three weeks after the initial dosage, the patient started to show signs of progressive neurological symptomatology and died 4 months thereafter due to bilateral bronchopneumonia. Due to unspecific MRI signs and negative PCR results, the diagnosis of PML was confirmed only postmortem. CONCLUSION: This case report demonstrates a possible severe adverse effect of the immunomodulatory drug ibrutinib and the importance of a multidisciplinary approach in its diagnosis. Since PML is a rare but highly fatal disease, it is of utmost importance to be aware of the possible connection with the use of this drug to prevent missed or delayed diagnosis, considering that timely therapeutic intervention is crucial for improved prognosis.

Sinus pilonidalis-elastic ligature as an optimal outpatient treatment.

BACKGROUND: The incidence of pilonidal sinus shows a steadily rising tendency, especially in the patient age group of up to 40 years. Treatment of this condition is often protracted involving lengthy sick leave and an increased risk of recurrence. The optimal treatment of pilonidal sinus remains open to debate, but it should focus on decreasing the length of hospitalization, promoting a rapid return to daily life, maintaining low pain levels, and keeping costs at a minimum. MATERIALS AND METHODS: In our study conducted between 2017 and 2021, we focused on treatment of pilonidal sinus. We performed 50 elastic ligature procedures with a median observation time of 30 months. The patients were divided into three groups according to the characteristics of pilonidal sinus: (1) acute primary abscess; (2) acute recurrent abscess; and (3) chronic fistula. RESULTS: Out of a total of 50 patients with a subsequent 30-month follow-up, we observed complete recovery in 47 patients and recurrence in three patients. Return to work was possible immediately after the operation, with an average total treatment time of 1 month for complete healing of the defect. CONCLUSION: The current results suggest that the technique of elastic ligature is a desirable solution for pilonidal sinus, because of the initial low costs, no need for hospitalization, and good patient tolerance.