Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

Individualized Mycophenolate Mofetil Dosing Based on Drug Exposure Significantly Improves Patient Outcomes After Renal Transplantation

Efficacy and safety of mycophenolate mofetil (MMF) may be optimized with individualized doses based on therapeutic monitoring of its active metabolite, mycophenolic acid (MPA). In this 12-month study, 137 renal allograft recipients from 11 French centers receiving basiliximab, cyclosporine A, MMF and corticosteroids were randomized to receive either concentration-controlled doses or fixed-dose MMF. A novel Bayesian estimator of MPA AUC based on three-point sampling was used to individualize doses on posttransplant days 7 and 14 and months 1, 3 and 6. The primary endpoint was treatment failure (death, graft loss, acute rejection and MMF discontinuation). Data from 65 patients/group were analyzed. At month 12, the concentration-controlled group had fewer treatment failures (p = 0.03) and acute rejection episodes (p = 0.01) with no differences in adverse event frequency. The MMF dose was higher in the concentration-controlled group at day 14 (p < 0.0001), month 1 (p < 0.0001) and month 3 (p < 0.01), as were median AUCs on day 14 (33.7 vs. 27.1 mg*h/L; p = 0.0001) and at month 1 (45.0 vs. 30.9 mg*h/L; p < 0.0001). Therapeutic MPA monitoring using a limited sampling strategy can reduce the risk of treatment failure and acute rejection in renal allograft recipients 12 months posttransplant with no increase in adverse events.     

Endovascular treatment (EVT) of acute traumatic lesions of the descending thoracic aorta--7 years' experience.

OBJECTIVES: To present a single centers' 7-year experience in the endovascular treatment of acute traumatic lesions of the descending thoracic aorta (ATL of the DTA). MATERIALS & METHODS: Between March 1999 and December 2006, 34 consecutive acute traumatic lesions of the descending aorta (23 men, mean age 44 years) were treated endovascularly. Stentgrafts used were TAG Excluder, Zenith TX2 and Talent. In 23 patients the Left Subclavian Artery (LSA) was covered. Mean procedural duration was 20 to 75 minutes. RESULTS: Exclusion of the rupture site was achieved in all cases with no conversion to open surgery. Overall 30-day mortality was 8.8%. Two patients died on post operative day (pod) 1 and one on pod 22 from cranial injuries. No death or neurological deficit related to the endovascular treatment was reported. Four type I endoleaks required treatment either by balloon reexpansion (n=2) or by additional stentgraft implantation (n=2). In two patients the stentgraft collapsed totally several days postoperatively. Two patients required secondary surgical procedures (iliac access complication and revascularisation of the left subclavian artery n=1). The average follow-up was 43.8 months (1-93 months). No stentgraft related abnormality has been subsequently documented. CONCLUSIONS: The endovascular treatment of ATL of the DTA may offer the best means of therapy in a polytrauma patient.     

Larynxtubus beim Traumapatienten

A multiply injured patient’s airway is primarily secured with a laryngeal tube by the responding EMS. For helicopter transfer the flight physician decides not to intubate the patient’s trachea. Mechanical ventilation was performed without complications.     

Perforation of a retrocaecal appendix presenting clinically as a right lumbar abscess.

Presentations of acute appendicitis represent an ongoing challenge to surgeons. This case of retrocaecal perforated appendicitis presented clinically as a right lumbar abscess, with the concomitant new diagnosis of type 2 diabetes mellitus in a 66-year-old male. This case emphasises the importance of an abdominal CT scan in any patient presenting with unusual sepsis near the abdomen.     

Usefulness of PCR Strategies For Early Diagnosis of Chagas'' Disease Reactivation and Treatment Follow-Up in Heart Transplantation

Heart transplantation (HTx) is a useful therapy for end‐stage Chaga? cardiomyopathy; however, Chagas reactivation remains a mayor complication. Parasitological methods offer poor diagnostic sensitivity, and use of more sensitive tools such as the Polymerase chain reaction (PCR) is usually necessary. In the present study, reactivation incidence and PCR usefulness for early reactivation diagnosis, as well as for treatment response evaluation during follow‐up, were analyzed using Strout parasite detection test, in 10 of 222 consecutive HTx patients suffering Chagas cardiomyopathy. PCR strategies targeted to minicircle sequences (kDNA, detection limit 1 parasite/ 10 mL blood) and miniexon genes (SL‐DNA, 200 parasite/10 mL) were performed to compare parasite burdens between samples. No patients received prophylactic antiprotozoal therapy (benznidazole). Five patients (50%) exhibited clinical reactivation within a mean period of 71.6 days; positive Strout results were observed in most cases presenting clinical manifestations. kDNA‐PCR was positive 38–85 days before reactivation, whereas SLDNA‐PCR became positive only 7–21 days later, revealing post‐HTx parasitic load enhancement present prior to clinical reactivation development. Reactivations were successfully treated with benznidazole and generated negative PCR results. Results observed in this study indicate the value of PCR testing for an early diagnosis of Chagas reactivation as well as for monitoring treatment efficacy.     

Options for Immunologic Support of Renal Transplantation Through the HLA and Immunology Laboratories

HLA and immunology laboratories are an integral part of clinical kidney transplant programs. They assist transplant clinicians with evaluating the immunological suitability of potential recipients for transplantation and selecting donor-recipient combinations with a low risk of immunological failure. With sophisticated new techniques becoming available for posttransplant immunological monitoring, laboratories play an increasing supporting role during posttransplant follow up. The level of precision at which immunological testing predicts clinical outcome, however, leaves room for improvement. In this article, we summarize the current state of diagnostics, discuss problems, and point out promising developments.