Anna Iacoi, Alexander Brobeil, Malena Götte, Christian Enzensberger, Vera Müller, Stefan Gattenlöhner and Roland Axt-Fliedner
Pulmonary capillary haemangiomatosis (PCH) is a rare disorder of the lung, well described in adult literature. PCH is characterized by capillary proliferation, infiltrating the interstitium and alveolar walls. This leads to development of respiratory distress and to end-stage pulmonary hypertension. Mostly young adults are affected. The affection of newborn is described in less than ten cases in literature in the past forty years. PCH is a mostly deadly ending disease. We present a preterm born infant with antepartal diagnosed hydrops fetalis, who died 30 minutes after birth. Autopsy revealed PCH as lethal reason and not cardial disease as presumed before.
Michał Krekora, Mariusz Grzesiak, Maciej Słodki, Ewa Gulczyńska, Iwona Maroszyńska, Maria Respondek-Liberska, Frank A. Chervenak and Laurence B. McCullough
INTRODUCTION: The aim of this study was to present our current practice of counseling patients and families with the most severe congenital malformations in the 3rd trimester of pregnancy and to develop practical guidelines for our team and involved healthcare/ socialcare professionals. MATERIAL & METHODS: It was a retrospective evaluation of a series of fetal cases in 2017 from single tertiary center. Maternal obstetrical medical history, time of prenatal detection of the anomaly (1st, 2nd or 3rd trimester), time between last fetal echocardiography and delivery, type of delivery, neonatal birth weight and time of neonatal demise. The total study group was subdived into early demise (during the 1st day after delivery) or late demise > 1st day after delivery. RESULTS: Mean maternal age was 30,4 +/- 5,6 years, and varied between 26 and 38 years. No chronic maternal diseases were found in medical history and no congenital malformations were present in previous children. All women had 1st trimester ultrasound, in 9 cases, it was reported as normal (with NT measurement < 2 mm), in 2 cases extracardiac abnormalities were detected: diaphragmatic hernia and omphalocele ( in both fetal karyotype 46,XY). In nine cases, the abnormalities were detected in midgestation and with maternal wish to continue the pregnancies. There were 8 neonatal deaths within 60 minutes after delivery, including one intrapartum death and 3 “late” neonatal deaths in the intensive care unit (on 12th, 21st and 22nd day). We stress upon the prenatal team approach and counseling of future parents, in order to prepare them for poor neonatal outcome. CONCLUSIONS: 1. In the most severe cases when fetal or neonatal demise was suspected, the two different opinions of specialists might not be enough and a third opinion should be recommended before final decision. 2. A Fetal Team of specialists is necessary in cases of expected fetal/neonatal demise in order to prepare a written report of recommended perinatal management for all sides involved in this difficult problem.
Krzysztof Czajkowski, Ewa Helwich, Krzysztof Preis, Mariusz Grzesiak, Michał Krekora, Ewa Gulczyńska, Katarzyna Kornacka, Krzysztof Zeman, Iwona Maroszyńska and Maria Respondek-Liberska
On 27.10.2017, in the course of the CARDIO-PRENATAL Conference at the Polish Mother’s Memorial Institute and Health Centre in Lodz, we presented, among others, the following problems:
classification of prenatal heart defects, fetal hemodynamic status evaluation in the third trimester, expected neonate’s clinical condition, planned procedures to be conducted just after birth and also planned medical staff to be present in the delivery room. Here are our main recommendations following the meeting and discussion.
John W. Ross, Alexandria Betz, Michael J. Paglia, Wen Feng, A. George Neubert and A. Dhanya Mackeen
OBJECTIVES: To evaluate short- and long-term growth in fetuses with growth restriction (FGR) and elevated umbilical artery Doppler (UAD) systolic/diastolic (S/D) ratios.
METHODS: In this prospective observational study, two UAD waveforms were obtained from each umbilical artery weekly and were classified as normal or abnormal. Fetal growth was assessed every 3 weeks. Short-term growth was calculated from the first visit with elevated ratios until next growth assessment. Results were grouped by number of initial elevated S/D ratios (maximum, 4). Long-term growth was evaluated by change in estimated fetal weight from diagnosis of FGR to birth weight. Fetuses were grouped by average number of elevated S/D ratios and compared to a reference population of growth restricted fetuses with normal testing.
RESULTS: Of 241 fetuses evaluated, 105 demonstrated elevated S/D ratios. Short-term growth was impaired when fetuses had elevated S/D ratios. Long-term growth was affected when the average number of elevated S/D ratios was ≥1 per visit. Progressive 3 or 4 growth delay was noted as the average number of abnormal S/D ratios increased.
CONCLUSIONS: Short- and long-term fetal growth are affected by elevated UAD S/D ratios. Fetuses with more abnormal values initially and those with a higher average of elevated values over pregnancy demonstrate decreased growth.
Monika Adamska, Anna Komosa, Tatiana Mularek, Joanna Rupa-Matysek and Lidia Gil
Cardiac amyloidosis is a rare and often-misdiagnosed disorder. Among other forms of deposits affecting the heart, immunoglobulin-derived light-chain amyloidosis (AL amyloidosis) is the most serious form of the disease. Delay in diagnosis and treatment may have a major impact on the prognosis and outcomes of patients. This review focuses on the presentation of the disorder and current novel approaches to the diagnosis of cardiac involvement in AL amyloidosis.
An 88-year-old female was admitted with autoimmune hemolytic anemia (AIHA). Coagulation test revealed severe prolongation of activated partial thromboplastin time (APTT). APTT cross-mixing test with patient plasma and normal plasma demonstrated an inhibitory pattern. Several intrinsic coagulation factor activities, particularly factor IX, showed remarkable decreases, and the inhibitor titers for coagulation factors VIII and IX were elevated. Although AIHA with existing antiphospholipid (aPL) antibodies was diagnosed initially, purpura developed on extremities intermittently during the clinical course. Considering the possibility of coexisting acquired hemophilia, APTT cross-mixing test with patient’s plasma and equal amount of the recombinant factor VIII product instead of normal plasma was performed. The APTT value on equal mixing samples with patient plasma and recombinant factor VIII product was decreased to within the normal range, and coagulation factor IX activity was restored. These results indicate that the recombinant factor VIII product had a neutralizing effect on aPL antibodies. We concluded that recombinant factor VIII product may lead to the repair of incorrect results from the APTT-dependent diagnostic system in the presence of aPL antibodies.
Aneta Neskoromna-Jędrzejczak, Katarzyna Bogusiak, Krzysztof Chojnowski, Marta Robak and Jacek Treliński
The preparation of patients with hemophilia before surgical operations and dental procedures constitutes a significant clinical challenge. This article presents the implantoprosthetic rehabilitation of a patient with severe hemophilia B (factor IX activity <1%). The patient was prepared for the surgical procedure with recombinant factor IX concentrate (Rixubis) during the clinical surgery study. Tooth extraction and the implantation of four dental implants in the mandible were planned: one dental implant of 3.7 mm diameter and 10 mm length in the place of tooth 35, and another of 3.2 mm diameter and 10 mm length in the place of tooth 37. The next two implants were implemented 1 month later: one implant 3.7 mm in diameter and 10 mm in length in the place of tooth 46, and another implant 3.2 mm in diameter and 10 mm in length in the area of tooth 44. Appropriate substitution of the missing coagulation factor, together with the use of local hemostatic therapy, allowed dental implantation to be performed without excessive blood loss in this patient with severe hemophilia B.
Here, we report a rare case of massive bone marrow necrosis, which – from the clinical findings and images – mimics disseminated bone metastasis. The patient was suffering from severe bone pain with elevated levels of serum alkaline phosphatase (ALP) and lactate dehydrogenase (LDH); moreover, strong incorporation of 18F-fluorodeoxyglucose in multiple bones was observed by positron emission tomography/computed tomography.
The underlying disease was Waldenström’s macroglobulinemia, which was thought to transform to cluster of differentiation 5 (CD5)-positive diffuse large B-cell lymphoma (DLBCL). The case showed a highly aggressive course, although the original Waldenström’s macroglobulinemia was in the stable state.
Clinicians should be aware of the co-occurrence of non-immunoglobulin-producing immature lymphoma, even with good course of Waldenström’s macroglobulinemia, and should pay attention to accompanying massive bone marrow necrosis, which mimics multiple cancer metastases to the bone. To the best of our knowledge, the present case is the first report of CD5-positive DLBCL transformed from CD5-negative Waldenström’s macroglobulinemia.
Henu Kumar Verma, Saikrishna Lakkakula and Bhaskar V.K.S. Lakkakula
Sickle cell anemia (SCA) is one of the inherited hemoglobin disorders with substantial morbidity and early mortality. Hydroxyurea is the US Food and Drug Administration (FDA)-approved medication that has emerged as the primary disease-modifying therapy for SCA. Our purpose is to summarize the available evidence regarding the pharmacology, clinical efficacy, and safety of hydroxyurea therapy for the treatment of SCA. The electronic databases PubMed and Embase were searched from their starting dates to May 31, 2016. Databases were searched using the following terms: sickle cell, hydroxyurea, nitric oxide, dosing, therapeutic, and safety monitoring. Hydroxyurea therapy may cause severe myelosuppression when used in patients with SCA. SCA patients are initially treated with hydroxyurea at 10 or 20 mg/kg, and then the dose- is escalated to mild myelosuppression using a standardized regimen. Routine blood monitoring should be performed while the patient receives hydroxyurea treatment. Hydroxyurea can increase fetal hemoglobin (HbF) level and ameliorate some of the vascular symptoms in patients with SCA. Hydroxyurea therapy may help to avoid frequent hospitalizations, especially in patients with vaso-occlusive crisis. Taken together, available evidence suggests that hydroxyurea represents an inexpensive and effective treatment option that should be offered to patients with SCA.