14 research outputs found
Severe intracranial haemorrhage in neonatal alloimmune thrombocytopenia
Neonatal alloimmune thrombocytopenia is a rare (1/1000-5000 births) life-threatening disorder, caused by fetomaternal incompatibility for a fetal human platelet alloantigen inherited from the father, with production of maternal alloantibodies against fetal platelets, leading to severe thrombocytopenia and potential bleeding. Intracranial haemorrhage is the most feared complication. This report presents the case of a term newborn infant, born from caesarean section after a normal pregnancy, presenting signs of skin bleeding with different ages. Obstetric history included a previous spontaneous abortion after amniocentesis. Severe thrombocytopenia (4×10(9)/l platelets) was found and brain ultrasound showed multiple intracranial haemorrhages. Human platelet antigen (HPA) phenotyping showed maternal negative HPA-1a and paternal positive HPA-1a platelets. Strongly positive anti-HPA-1a and weakly positive anti-human leukocyte antigen class I alloantibodies were found in the mother. Multiple platelet transfusions, intravenous immunoglobulin and corticosteroid were given but favourable response was accomplished only after a compatible platelet transfusion. Brain MRI showed multiple subacute and chronic haemorrhages
JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients
The clinical courses of polycythemia vera (PV) and essential thrombocythemia (ET) are characterized by thrombohemorrhagic diathesis. Several groups have suggested an association between JAK2V617F mutation and thrombosis. We hypothesized a relationship between JAK2V617F allele burden, cellular activation parameters, and thrombosis. We evaluated a group of PV and ET patients using flow cytometry: platelet CD62P, CD63, and dense granules, platelet-leukocyte aggregates (PLA), leukocyte CD11b and monocyte tissue factor (TF) expression. All patients had increased baseline platelet CD62P and CD63 expression (p 50 % presented higher levels of leukocyte activation. In ET, thrombosis was associated with JAK2V617F mutation (p < 0.05, χ (2) = 5.2), increased monocyte CD11b (p < 0.05) and with platelet-PMN aggregates (p < 0.05). In ET patients, hydroxyurea does not significantly reduce the activation parameters. Our data demonstrate that JAK2V617F allele burden is directly correlated with activation parameters that drive mechanisms that favor thrombosis.info:eu-repo/semantics/publishedVersio
Assessment of rotatory laxity in anterior cruciate ligament-deficient knees using magnetic resonance imaging with Porto-knee testing device
Purpose Objective evaluation of both antero-posterior
translation and rotatory laxity of the knee remains a target
to be accomplished. This is true for both preoperative
planning and postoperative assessment of different ACL
reconstruction emerging techniques. The ideal measurement tool should be simple, accurate and reproducible,
while enabling to assess both ‘‘anatomy’’ and ‘‘function’’
during the same examination. The purpose of this study is
to evaluate the clinical effectiveness of a new in-housedeveloped testing device, the so-called Porto-knee testing
device (PKTD). The PKTD is aimed to be used on the
evaluation of both antero-posterior and rotatory laxity of
the knee during MRI exams.
Methods Between 2008 and 2010, 33 patients with ACLdeficient knees were enrolled for the purpose of this study.
All patients were evaluated in the office and under
anesthesia with Lachman test, lateral pivot-shift test and
anterior drawer test. All cases were studied preoperatively
with KT-1000 and MRI with PKTD, and examinations
performed by independent observers blinded for clinical
evaluation. During MRI, we have used a PKTD that applies
antero-posterior translation and permits free tibial rotation
through a standardized pressure (46.7 kPa) in the proximal
posterior region of the leg. Measurements were taken for
both knees and comparing side-to-side. Five patients with
partial ruptures were excluded from the group of 33.
Results For the 28 remaining patients, 3 women and 25
men, with mean age of 33.4 ± 9.4 years, 13 left and 15 right
knees were tested. No significant correlation was noticed for
Lachman test and PKTD results (n.s.). Pivot-shift had a
strong positive correlation with the difference in anterior
translation registered in lateral and medial tibia plateaus of
injured knees (cor. coefficient = 0.80; p\0.05), and with
the difference in this parameter as compared to side-to-side
(cor. coefficient = 0.83; p\0.05).
Considering the KT-1000 difference between injured and
healthy knees, a very strong positive correlation was found
for side-to-side difference in medial (cor. coeffi-
cient = 0.73; p\0.05) and lateral (cor. coefficient = 0.5;
p\0.05) tibial plateau displacement using PKTD.
Conclusion The PKTD proved to be a reliable tool in
assessment of antero-posterior translation (comparing with
KT-1000) and rotatory laxity (compared with lateral pivotshift under anesthesia) of the ACL-deficient knee during
MRI examinatio
Osteochondral transplantation using autografts from the upper tibio-fibular joint for the treatment of knee cartilage lesions
Purpose Treatment of large cartilage lesions of the knee
in weight-bearing areas is still a controversy and challenging topic. Autologous osteochondral mosaicplasty has
proven to be a valid option for treatment but donor site
morbidity with most frequently used autografts remains a
source of concern. This study aims to assess clinical results
and safety profile of autologous osteochondral graft from
the upper tibio-fibular joint applied to reconstruct symptomatic osteochondral lesions of the knee.
Methods Thirty-one patients (22 men and 9 women) with
grade 4 cartilage lesions in the knee were operated by
mosaicplasty technique using autologous osteochondral
graft from the upper tibio-fibular joint, between 1998 and
2006. Clinical assessment included visual analog scale
(VAS) for pain and Lysholm score. All patients were
evaluated by MRI pre- and post-operatively regarding joint
congruency as good, fair (inferior to 1 mm incongruence),
and poor (incongruence higher than 1 mm registered in any
frame). Donor zone status was evaluated according to
specific protocol considering upper tibio-fibular joint
instability, pain, neurological complications, lateral collateral ligament insufficiency, or ankle complaints.
Results Mean age at surgery was 30.1 years (SD 12.2). In
respect to lesion sites, 22 were located in weight-bearing
area of medial femoral condyle, 7 in lateral femoral condyle, 1 in trochlea, and 1 in patella. Mean follow-up was
110.1 months (SD 23.2). Mean area of lesion was 3.3 cm
2
(SD 1.7), and a variable number of cylinders were used,
mean 2.5 (SD 1.3). Mean VAS score improved from 47.1
(SD 10.1) to 20.0 (SD 11.5); p = 0.00. Similarly, mean
Lysholm score increased from 45.7 (SD 4.5) to 85.3
(SD 7.0); p = 0.00. The level of patient satisfaction was
evaluated, and 28 patients declared to be satisfied/very
satisfied and would do surgery again, while 3 declared as
unsatisfied with the procedure and would not submit to
surgery again. These three patients had lower clinical scores
and kept complaints related to the original problem but
unrelated to donor zone. MRI score significantly improved
at 18–24 months comparing with pre-operative (p = 0.004).
No radiographic or clinical complications related to donor
zone with implication in activity were registered.
Conclusions This work corroborates that mosaicplasty
technique using autologous osteochondral graft from the
upper tibio-fibular joint is effective to treat osteochondral
defects in the knee joint. No relevant complications related
to donor zone were registered
Genotype–phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS
The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF. We compared the classical Sanger sequencing approach and NGS to assess the value-added effect on the analysis of the mutation distribution in different types of VWD. Sixty-two different VWF mutations were identified, 27 of which had not been previously described. NGS detected 26 additional mutations, contributing to a broad overview of the mutant alleles present in each VWD type. Twenty-nine probands (48.3 %) had two or more mutations; in addition, mutations with pleiotropic effects were detected, and NGS allowed an appropriate classification for seven of them. Furthermore, the differential diagnosis between VWD 2B and platelet type VWD (n = 1), Bernard-Soulier syndrome and VWD 2B (n = 1), and mild haemophilia A and VWD 2N (n = 2) was possible. NGS provided an efficient laboratory workflow for analysing VWF. These findings in our cohort of Portuguese patients support the proposal that improving VWD diagnosis strategies will enhance clinical and laboratory approaches, allowing to establish the most appropriate treatment for each patient