A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical phenotypic features of mulibrey nanism. Mutation screening of the TRIM37 gene revealed that the proband had a homozygous two base pair deletion, c.1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder.     

Hypersensitivity to aeroallergens in patients with recurrent vulvovaginitis of undetermined etiology

AIM: Recent findings show that the vaginal mucosa can develop an allergic response to environmental allergens and there is a strong association between atopy and some recurrent vulvovaginal infections. In this study, we investigated prospectively the rate of atopy in patients with recurrent vulvovaginitis of undetermined etiology (RVV). MATERIAL AND METHODS: After being investigated by a gynecologist, 35 patients with RVV who were considered as undetermined etiology formed the study group. The control group consisted of 150 healthy females. Study and control groups were investigated for atopy by means of skin prick test for common aeroallergens. Associated allergic disease and familial atopy history of the subjects were recorded. RESULTS: The rate of atopy (11/35; 31.4% vs 9/150; 6%) was significantly higher (P < 0.001) in the study group than in the controls. Familial history of atopy was significantly more frequent in the study group than in the controls (10/35; 28.6% vs 8/150; 5.3%, P < 0.05). RVV in atopics is more associated with seasonal rhinitis than in nonatopics (5/11; 45.4% vs 2/24; 8.3%, P < 0.05). CONCLUSION: We concluded that a significant number of RVV is associated with atopy. Although the exact mechanism(s) of this relationship remains to be investigated atopy might be a causative and/or contributing factor in the pathogenesis of RVV.     

Renal angiomyolipoma with malignant transformation, simultaneous occurrence with malignity and other complex clinical situations

Renal angiomyolipoma is a benign kidney tumor, which is characterized by the presence of mature or immature fat tissue, thick-walled blood vessels, and smooth muscles. However, there is a rare possibility of transformation to a malignancy. This transformation could be toward sarcoma. And also angiomyolipoma could be associated with renal adenocarcinoma in the same kidney. The aim of this study is to show the association of angiomyolipoma with complex clinical situations such as malign transformation, simultaneous occurrence with adenocarcinoma, bilateral tumors with tuberous sclerosis or Wunderlich Syndrome. Findings of clinical presentation, pathological evaluation, urography, ultrasonography, and computerized tomography of 19 patients who were diagnosed angiomyolipoma in our clinic during 1994–2003 were examined retrospectively. Our records indicated that radical nephrectomy was performed in three cases of angiomyolipoma in which the differential diagnosis from adenocarcinoma could not be made and in another case of angiomyolipoma, which was associated with adenocarcinoma. Simple nephrectomy was performed in four symptomatic angiomyolipoma cases with tumor size larger than 4 cm and partial nephrectomy in another case. In one case, renal angiomyolipoma was associated with adenocarcinoma in the same kidney. In one case, post-operative recurrence of angiomyolipoma developed 7 months after nephrectomy. This patient was diagnosed low-grade leiomyosarcoma. Angiomyolipoma is regarded as a benign tumor of the kidney; however, it may also show aggressive behaviors and rarely transform to sarcoma. It may also exist in the same kidney along with adenocarcinoma or sarcoma.     

Prevalence and correlates of COVID-19 vaccine hesitancy among the elderly in Qatar: A cross-sectional study

Older individuals are more vulnerable to severe coronavirus disease 2019 and medical complications. Vaccination stands as an efficient and safe vanguard against infection. However, negative attitudes and perceptions pertaining to available vaccines might hinder community inoculation. The aim of this study was to assess vaccine hesitancy and its psychosocial determinants among the elderly in Qatar.We conducted a cross-sectional study between October 15 and November 15, 2020, using a composite online survey including the Vaccine Attitudes Examination Scale in addition to questions on sociodemographic correlates and the role of healthcare professionals.The vaccine hesitancy rate was 19.5%. The main reasons for willingness to vaccinate included understanding the nature of disease and role of vaccination, in addition to information provided by physicians. Fears mainly centered around vaccine safety. Vaccine hesitators were more likely to be non-Qatari and having received the influenza vaccine at least once. Gender, marital status, socioeconomic status, educational level, and having completed childhood vaccinations were not associated with vaccine hesitancy.Efforts should be directed toward raising awareness of vaccine efficacy and safety profiles. Physicians should additionally be educated about their pivotal role in advocating vaccine acceptance. We recommend reassessing vaccine hesitancy and its associated factors following a year of campaigning and vaccine administration to identify and target vulnerable groups.     

Calcium entry blocking activity of dilazep and other adenosine potentiating compounds in guinea-pig atria

In potassium-depolarized guinea-pig left atria treated with isoproterenol, calcium entry blocking activities of adenosine and its potentiating compounds, dipyridamole, lidoflazine and dilazep were studied and compared to verapamil and diltiazem. pA2 values for various drugs were calculated using concentration-response curves for calcium (parallel shift to the right). The order of potency for the calcium entry blocking effect was: verapamil greater than diltiazem greater than adenosine greater than lidoflazine = dilazep greater than dipyridamole. Adenosine caused negative inotropic effects in depolarized left atria. The negative inotropic effect of adenosine was very quick in onset and was potentiated by erythro-6-amino-9(2-hydroxy-3-nonyl)-purine hydrochloride (EHNA), an adenosine deaminase inhibitor, suggesting that adenosine was being degraded. The effect of adenosine was quickly abolished by adenosine deaminase (ADA) and antagonized by 8-phenyltheophylline (8-PT), suggesting that the action of adenosine was most likely through the surface membrane receptor sites. The negative inotropic effects of dilazep and dipyridamole were only partially reversed by ADA and 8-PT, while that of lidoflazine was not affected by these agents. These findings suggest that the mechanism(s) of negative intotropic effect of lidoflazine was different from that of dilazep and dipyridamole. These data suggest that the negative intropic effect of dilazep is most likely due to a direct calcium entry blocking effect and in part due to its adenosine potentiating effect. However, the calcium entry blocking effect of lidoflazine is independent of adenosine.     

Suicidality Over the First 5 Years of Psychosis: Does Extending Early Intervention Have Benefits?

Objective:We aimed to investigate whether individuals with first-episode psychosis (FEP) receiving extended early intervention (EI) were less likely to experience suicidal ideation and behaviors than those transferred to regular care after 2 years of EI. Another objective was to examine the 5-year course of suicidality in FEP.Methods:We conducted a secondary analysis of a randomized controlled trial where 220 patients were randomized after 2 years of EI to receive extended EI or regular care for the subsequent 3 years. Suicidality was rated using the Brief Psychiatric Rating Scale. Linear mixed model analysis was used to study time and group effects on suicidality.Results:Extended EI and regular care groups did not differ on suicidality. There was a small decrease in suicidality over time, F(7, 1038) = 1.84, P = 0.077, with an immediate sharp decline within a month of treatment, followed by stability over the remaining 5 years. Patients who endorsed suicidality at entry (46.6%) had higher baseline positive, negative, and depressive symptoms. The 5-year course fell in 3 groups: never endorsed suicidality (33.9%), endorsed suicidality at low-risk levels (43.1%), and endorsed high-risk levels (23.0%). The high-risk group had a higher proportion of affective versus nonaffective psychosis diagnosis; higher baseline positive and depressive symptoms; higher 5-year mean depression scores, and fewer weeks of positive symptom remission over the 5-year course.Conclusions:The first month of treatment is a critical period for suicide risk in FEP. Although early reductions in suicidality are often maintained, our findings make the case for sustained monitoring for suicide risk management.     

Comparison of Bleeding Complications between Transplenic versus Transhepatic Access of the Portal Venous System

Purpose

To evaluate the incidence of bleeding complications between transplenic (TS) and transhepatic (TH) access in portal venous interventions.

Optimization-Based Economical Flexural Design of Singly Reinforced Concrete Beams: A Parametric Study

In the past, many studies have been conducted on the optimization of reinforced concrete (RC) structures. These studies have demonstrated the effectiveness of different optimization techniques to obtain an economical design. However, the use of optimization techniques to an obtain economical design is not so practical due to the difficulty in applying most of the optimization techniques to achieve an optimal solution. The RC beam is one of the most common structural elements encountered by a practising design engineer. The current study is designed to highlight the potential of the Solver tool in MS Excel as an easy-to-use option for optimizing the design of simply supported RC beams. A user-friendly interface was developed in a spreadsheet in which beam design parameters from a typical design can be entered and an economical design can be obtained using the Evolutionary Algorithm available in the MS Excel Solver tool. To demonstrate the effectiveness of the developed optimization tool, three examples obtained from the literature have been optimized. The results showed that up to 24% economical solution can be obtained by keeping the same material strengths that were assumed in the original design. However, if material strength is also considered as a variable, up to 44% of the economical solution can be obtained. A parametric study was also conducted to investigate the effect of different design variables on the economical design of simply supported RC beams and to derive useful rules of thumb for their design and proportioning, with the objective of cost minimization. The results of the parametric study suggest that the grade of the reinforcing steel is one of the most influential factors that affect the cost of simply supported RC beams. Practicing engineers can use the trends derived from this research to further refine their optimal designs.     

Causes of acute poisoning in adults: a retrospective study, in a hospital in Istanbul, Turkey

Aim  

Acute poisoning is one of the major topics in emergency medicine practices. Despite the recent developments in toxicology, technological advances and changing lifestyles reveal new factors, and poisoning cases remain to be a problem. All poisonings should be considered serious and independent from their clinical presentation at the time of admission. Identifying the cause and prompt initiation of treatment is life-saving. Causes of poisoning vary between countries and different regions of the same country. In the present study, cases admitted to the Emergency Department of Internal Medicine at Haseki Training and Research Hospital were evaluated and causes of acute poisoning were investigated.     

A reliable option for wrist soft tissue defects: adipofascial flaps for immediate and late reconstruction

Extensive volar injuries are common and devastating because of the long‐term adhesion potency. The gliding effect of the adipose tissue is essential in preventing tendon adhesions after injury. In this study, we present the results of performing adipofascial flaps for the reconstruction of soft tissue defects following wrist trauma. The study included 15 patients. Adipofascial flaps were performed for immediate coverage of the tissue defect in 2 patients and for late adhesion‐related problems in 13 patients. Flap dimensions varied from 8 × 14 to 8 × 20 cm. All but one of the flaps and skin grafts survived uneventfully. None of the patients, whether immediate or late, required another operation to address further adhesion problems. Since adipofascial flaps provide a gliding surface, they are a good choice for immediate coverage of soft tissue defects in the wrist that are not suitable for skin grafting alone as well as for late adhesion‐related problems.