Microvascular reconstruction of a giant encephalocele defect in a 10-week-old infant.

Microvascular reconstruction of a cranial defect in a 10-week-old infant, which is the youngest case in the literature, is reported. A latissimus dorsi free muscle flap was transferred to cover the defect and a split thickness skin graft was placed over the muscle flap. Despite the successful flap transfer in this case, microvascular reconstruction in an infant has its own risks and infants should be discussed as a separate entity apart from the other pediatric patients.     

Sexual dysfunction in patients with schizophrenia on antipsychotic medication.

OBJECTIVE: The objective of this study was to determine the prevalence of sexual dysfunction in patients with schizophrenia under antipsychotic therapy and to investigate the effect of various parameters on sexual dysfunction. METHOD: A total of 827 stabilized outpatients who met DSM-IV criteria for schizophrenia, were recruited in the study. Arizona Sexual Experience Scale (ASEX) and the subscale on sexual function of the UKU Side Effects Rating Scale were applied at a single interview. RESULTS: In total, 52.6% of the patients had sexual dysfunction, 54.2% reported a low sexual desire and 41.7% reported problems in having an orgasm. Erectile dysfunction and ejaculation problems were seen in 48.1% and 64.2% of the men, respectively; amenorrhea was seen in 24.9% of the women. ASEX score and severity of disease were found to be correlated (p=0.02). Higher ASEX scores were observed in patients who smoked (p=0.01). Men receiving atypical monotherapy had lower ASEX scores than those receiving a combination of atypical and conventional antipsychotics (p=0.017). Patients on combination therapy had more ejaculation problems than the atypical group (p=0.001). Low sexual desire was more prevalent among women using conventional drugs than those on atypical drugs (p=0.004). In linear regression analyses, ASEX was affected significantly and independently by the severity of the disease only in men (p=0.005). CONCLUSION: Our results show that sexual dysfunction is widespread among patients with schizophrenia on antipsychotic medications.     

Comparison and validation of scoring systems in a cohort of patients treated for perforated peptic ulcer

Background and aims The aim of this study is to evaluate the predictive accuracy of different scoring systems on surgery for perforated peptic ulcer referred to an academic department of general surgery in a tertiary reference center. Patients and methods Seventy-five consecutive patients (Male/female ratio = 64:11; mean age, 44 years; range, 16–85) with perforated peptic ulcer disease were investigated. Disease severity scores and mortality predictions were calculated using the collected data during admission. Discrimination and calibration characteristics of each system, namely, the acute physiology and chronic health evaluation II and III, the simplified acute physiology score II, and the mortality probability models (MPM) II, were determined by using the area under receiver operating characteristics curve and the Hosmer–Lemeshow goodness-of-fit test, respectively. Results Among the 75 patients included, there were eight (10.6%) mortalities. All systems had a reliable power of discrimination and calibration. Among the systems tested, MPM II was the best performing as far as discrimination and calibration characteristics were considered. The parameters of MPM II system that were related to systemic perfusion of the patient were significantly positive in patients who died compared to those who survived. Conclusions MPM II that predicted mortality at admission is better than the other systems in predicting mortality. Results also indicate the importance of maintenance of systemic perfusion of the patient at the early phases of peptic ulcer perforation.     

Pilot detection study of alpha(1) antitrypsin deficiency in a targeted population

Screenings for the genetic disorder alpha(1) antitrypsin deficiency (AAT Deficiency) have been one of two models: large screenings of general populations and small targeted detection programs in high-risk groups. The most appropriate screening and detection methodologies in terms of target populations, subject participation and yield of positive tests, however, have not been well defined. The major objective of this pilot study was to evaluate the effectiveness in terms of participation of two different AAT Deficiency detection programs using a self-administered fingerstick blood test. Individuals ages 30-60 under the care of a pulmonary physician and with a diagnosis of emphysema, COPD, chronic bronchitis, or bronchiectasis were the targeted population. Participants were offered AAT Deficiency testing in the pulmonary physician's office compared with testing offered through mail. Participation (i.e., frequency of subject participation in the detection program) of two different AAT Deficiency detection programs. Non-participation was due to fear of self-administered testing and research studies; women were more likely to participate than men. Eligible subjects were significantly more likely to participate when offered testing by their pulmonary physician in-office (83%) than mail-only (42%) (P < 0.02). Although self-administered genetic testing is available, highest participation in AAT Deficiency detection program was found when offered directly by the physician. This finding may have implications for screening and detection of other genetic diseases. Future studies need to evaluate the yield (i.e., frequency of positive tests) of these detection methodologies in highly targeted populations.     

Glutathione-S-transferase P1 gene polymorphism and susceptibility to endometriosis

BACKGROUND: Glutathione-S-tranferase (GST) is the part of the key phase II detoxifying enzyme system. Many studies have investigated the role of GSTM1 and GSTT1 gene polymorphisms in endometriosis. Although GSTP1 was found to be one of the most abundant types of GST in genital system, there are insufficient data about the importance of the role of GSTP1 gene polymorphism in endometriosis. METHODS: This case-control study involved 150 patients with endometriosis and 150 controls. The frequency of GSTP1 single nucleotide polymorphisms was evaluated using PCR and melting curve analysis. RESULTS: The proportion of GSTP1 ile/ile tended to be higher in patients with endometriosis than control group, although the difference was not significant [odds ratio (OR)=1.53; 95% confidence interval (CI)=0.95-2.46]. In contrast, GSTP1 val/val was significantly higher in control patients and seems protective for endometriosis (OR=0.10; 95% CI=0.02-0.42). CONCLUSION: The results of this study suggest that GSTP1 polymorphism might modulate the risk of endometriosis with significantly decreased risk for GSTP1 val/val and marginally increased risk for GSTP1 ile/ile. Further studies on not only the disease processes but also normal distribution of the enzyme in female genital tract may provide better understanding about the role of GST types and their polymorphs in endometriosis.     

Single-stage medial plateau elevation and metaphyseal osteotomies in advanced-stage Blount’s disease: a new technique

PurposeSurgical treatment in advanced-stage infantile Blount’s disease with medial plateau (MP) depression is challenging. Several osteotomies and fixation methods have been described with no established benchmark. We conducted this study to evaluate the efficacy and safety of a new single-stage technique for acute medial condyle elevation and metaphyseal osteotomies with internal fixation.MethodsA prospective case series of 19 consecutive patients (21 knees) with severe infantile Blount’s disease underwent a single-stage MP elevation and metaphyseal osteotomies, with internal fixation. The mean age was 10.3 years (8.2 to 13.6) and the mean follow-up was 5.1 years (3.2 to 8.3). The outcome measures included clinical and radiological parameters and patient-reported pediatric outcomes data collection instrument (PODCI) score.ResultsThe mean PODCI score improved significantly from 50% to 88%. The mean internal tibial torsion improved from -27° to 11°. All cases maintained full knee extension, no limitation in flexion range of movement and no signs of instability or lateral thrust gait. All the radiographic parameters improved significantly; the mean tibiofemoral angle improved from -29° to 7°, the metaphyseal-diaphyseal angle improved from 33.4° to 4.7° and the angle of depressed MP improved from 38.3° to 2.4° (p < 0.001). At the latest follow-up, no cases of deformity recurrence were identified, the final limb-length discrepancy was < 1 cm in all patients.ConclusionSingle-stage MP elevation and metaphyseal osteotomies with internal fixation significantly improved the clinical and radiographic parameters and PODCI score in advanced infantile Blount’s disease and precluded the use of external immobilization, with no evidence of deformity recurrence.Level of evidenceIV     

The “vaccine” hubbub: Viral load comparisons of SARS-CoV-2 Delta and Omicron variants against different vaccine–booster vaccine combinations

There is a significant body of evidence showing that efficient vaccination schemes against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is helping control the coronavirus disease 2019 (COVID-19) pandemic. However, this goal cannot be achieved without real world data highlighting the impact of vaccines against viral spread. In this study, we have aimed at differentially investigating the impact of COVID-19 vaccines (CoronaVac, Pfizer/BioNTech, Astra/Zeneca Oxford, Janssen) used in North Cyprus in limiting the viral load of Delta and Omicron variants of SARS-COV-2. We have utilized real-time quantitative polymerase chain reaction cycle threshold values (Ct values) as a proxy of viral load of the two SARS-CoV-2 variants. Our results indicate that the administration of at least two doses of the messenger RNA-based Pfizer/BioNTech vaccine leads to the lowest viral load (highest Ct values) obtained for both Omicron and Delta variants. Interestingly, regardless of the vaccine type used, our study revealed that Delta variant produced significantly higher viral loads (lower Ct values) compared with the Omicron variant, where the latter was more commonly associated with younger patients. Viral spread is a crucial factor that can help determine the future of the pandemic. Thus, prioritizing vaccines that will play a role in not only preventing severe disease but also in limiting viral load and spread may contribute to infection control strategies.     

Genetic susceptibility and ischaemic stroke

In the past year the search for genetic susceptibility factors involved in ischaemic stroke has motivated a number of important studies in humans and animals. These have been focused on genetic susceptibility as a risk factor for ischaemic stroke, or as a determinant of ischaemic stroke outcome. Because there is increasing evidence that genetic factors play a role, it seems that epidemiological studies assessing both environmental and genetic risk factors may help to understand the cause of ischaemic stroke better. This may have therapeutic and preventive implications.