Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome

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Giant recurrent perineal endometriosis in an episiotomy scar – a case report

The occurrence of perineal endometriotic lesions can be explained by mechanical dissemination and transplantation of endometrial cells. Viable decidual endometrial cells are likely to be transplanted into the episiotomy wounds or perineal tears during normal vaginal delivery and subsequent growth may occur. A case of a 33-year old woman with a medical history of recurrent perineal endometriosis was described. An endometriotic giant mass (8 centimeter in diameter) was wide-excised, together with the episiotomy scar. The recovery was uneventful. Three years after the surgery, the patient is symptom-free and with no signs of recurrence or discomfort. According to the literature and our own experience, a complete excision of endometriotic tissue is the treatment of choice. We can conclude that a wide excision is mandatory as it is the only way to prevent tumor recurrence

Postępowanie w dużej torbieli śledziony w ciąży – opis przypadku

Splenic cysts in pregnancy are an extremely rare disorder and to date only seven such cases have been reported in literature. The consensus for the management of pregnant patients with splenic cysts is therefore yet to be established. A 25-year old nullipara with a large (10 cm in diameter) splenic cyst located in the upper pole and the hilum was qualified for surgery in the second trimester of pregnancy. Open total splenectomy was performed because of the central location and large diameter of the cyst. No complications were reported. The pathology report demonstrated secondary cyst (pseudocyst). The remaining antepartum course was uneventful and the patient spontaneously delivered a healthy baby at 39 weeks of pregnancy. We are of the opinion that splenic cysts should be operated on in the second trimester of pregnancy because of the risk of spontaneous rupture. Total splenectomy is a safe and effective procedure for centrally located large cysts.Torbiele śledziony u ciężarnych są niezwykle rzadko spostrzeganą jednostką chorobową, do chwili obecnej w literaturze opisano zaledwie siedem przypadków. Z tego względu nie opracowano konsensusu postępowania u ciężarnych z torbielami śledziony. Przedstawiono przypadek 25-letniej pierworódki z torbielą średnicy 10 cm, zajmującej górny biegun i wnękę śledziony, którą zakwalifikowano do leczenia operacyjnego w trzecim trymestrze ciąży. Ze względu na centralną lokalizację torbieli wykonano całkowitą, otwartą splenektomię. W przebiegu śród- i pooperacyjnym nie stwierdzono żadnych powikłań. Badanie histopatologiczne ujawniło torbiel wtórną (rzekomą) śledziony. Pozostały przebieg ciąży był niepowikłany i pacjentka urodziła zdrowe dziecko siłami natury w 39 tygodniu ciąży. W naszej opinii duże torbiele śledziony powinny być operowane w drugim trymestrze ciąży ze względu na ryzyko samoistnego pęknięcia. W przypadku centralnej lokalizacji torbieli całkowita splenektomia jest bezpiecznym i skutecznym sposobem postępowania

Transfusion-related acute lung injury in a patient diagnosed with hypofibrinogenemia after a cesarean section – case report and review of the literature

Background: Transfusion-related acute lung injury (TRALI) is a rare, but potentially fatal, complication of blood product transfusion, manifesting as acute respiratory distress syndrome. In most cases, TRALI is associated with massive transfusion of fresh frozen plasma and platelets. Case report: A 38-year-old-woman at 40 weeks gestation was admitted to hospital with spontaneous labor contractions. A cesarean section was performed due to feto-pelvic disproportion and a male infant (Apgar 10) was delivered. After 37 hours low hemoglobin level and growing subfascial hematoma were detected. Urgent relaparotomy was carried out. The blood loss was over 1500 ml and a massive transfusion (6 units of red cell concentrate, 8 units of fresh frozen plasma and 6 units of cryoprecipitate) was necessary. The patient developed symptoms of acute respiratory distress 10 hours after relaparotomy. No pathological findings were shown in echocardiography and ECG. Chest CT revealed pulmonary edema. Low fibrinogen levels were observed in laboratory tests, decreasing in time after transfusion of the blood products to 1.0/L. Oxygen therapy with facial mask was initiated, furosemide was administered and continued for three days until symptom resolution. A series of hematological tests performed after the patient was discharged from hospital confirmed the diagnosis of TRALI and congenital hypofibrinogenemia. Conclusion: Congenital hypofibrinogenemia may be responsible for the development of subfascial hematoma, a complication of cesarean section, necessitating relaparotomy. The following massive transfusion of blood products resulted in a potentially fatal complication in a form of TRAL

TP53 polymorphism in plasma cell myeloma

Introduction. Significant and accessible predictive factors for bortezomib treatment in plasma cell myeloma (PCM) are still lacking. TP53 codon 72 polymorphism (P72R) results in proline (P) or arginine (R) at 72 amino acid position, which causes synthesis of proteins with distinct functions. The aims of our study were to: 1) analyze whether this polymorphism is associated with an increased risk of PCM; 2) study whether the P72R polymorphism affects overall survival (OS) among PCM patients; 3) assess the possible association of the P72R polymorphism with sensitivity to bortezomib in cell cultures derived from PCM patients. Material and methods. Genomic DNA from newly diagnosed 59 patients (without IgVH gene rearrangements and TP53 deletions) and 50 healthy blood donors were analyzed by RFLP-PCR to identify TP53 polymorphism. Chromosomal aberrations were detected by use of cIg-FISH. The lymphocyte cell cultures from a subgroup of 40 PCM patients were treated with bortezomib (1, 2 and 4 nM). Results. The P allele of the P72R polymorphism was more common than the R allele in PMC patients compared to controls (39% vs. 24%), and the difference was significant (p = 0.02). The PP and PR genotypes (in combina­tion) were more frequent among cases than in controls (65% vs. 42%, OR = 2.32, p = 0.04). At the cell culture level and 2 nM bortezomib concentration the PP genotype was associated with higher necrosis rates (10.5%) compared to the PR genotype (5.7%, p = 0.006) or the RR genotype (6.3%, p = 0.02); however, no effect of genotypes was observed at bortezomib concentrations of 1 and 4 nM. The shortest OS (12 months) was observed in patients with the PP genotype compared to patients with the PR or RR genotypes (20 months) (p = 0.04). Conclusions. The results suggest that P72R polymorphisms may be associated with an increased PCM risk and may affect OS of PCM patients. However, we saw no consistent results of the polymorphism effect on apoptosis and necrosis in cell cultures derived from PCM patients. Further studies are need in this regard