Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome

Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT). Procedure In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center. Results A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant. Conclusions Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature

Predictors of Enhancing Human Physical Attractiveness: Data from 93 Countries

People across the world and throughout history have gone to great lengths to enhance their physical appearance. Evolutionary psychologists and ethologists have largely attempted to explain this phenomenon via mating preferences and strategies. Here, we test one of the most popular evolutionary hypotheses for beauty-enhancing behaviors, drawn from mating market and parasite stress perspectives, in a large cross-cultural sample. We also test hypotheses drawn from other influential and non-mutually exclusive theoretical frameworks, from biosocial role theory to a cultural media perspective. Survey data from 93,158 human participants across 93 countries provide evidence that behaviors such as applying makeup or using other cosmetics, hair grooming, clothing style, caring for body hygiene, and exercising or following a specific diet for the specific purpose of improving ones physical attractiveness, are universal. Indeed, 99% of participants reported spending \u3e10 min a day performing beauty-enhancing behaviors. The results largely support evolutionary hypotheses: more time was spent enhancing beauty by women (almost 4 h a day, on average) than by men (3.6 h a day), by the youngest participants (and contrary to predictions, also the oldest), by those with a relatively more severe history of infectious diseases, and by participants currently dating compared to those in established relationships. The strongest predictor of attractiveness-enhancing behaviors was social media usage. Other predictors, in order of effect size, included adhering to traditional gender roles, residing in countries with less gender equality, considering oneself as highly attractive or, conversely, highly unattractive, TV watching time, higher socioeconomic status, right-wing political beliefs, a lower level of education, and personal individualistic attitudes. This study provides novel insight into universal beauty-enhancing behaviors by unifying evolutionary theory with several other complementary perspectives

Exploring Attitudes Toward “Sugar Relationships” Across 87 Countries: A Global Perspective on Exchanges of Resources for Sex and Companionship

The current study investigates attitudes toward one form of sex for resources: the so-called sugar relationships, which often involve exchanges of resources for sex and/or companionship. The present study examined associations among attitudes toward sugar relationships and relevant variables (e.g., sex, sociosexuality, gender inequality, parasitic exposure) in 69,924 participants across 87 countries. Two self-report measures of Acceptance of Sugar Relationships (ASR) developed for younger companion providers (ASR-YWMS) and older resource providers (ASR-OMWS) were translated into 37 languages. We tested cross-sex and cross-linguistic construct equivalence, cross-cultural invariance in sex differences, and the importance of the hypothetical predictors of ASR. Both measures showed adequate psychometric properties in all languages (except the Persian version of ASR-YWMS). Results partially supported our hypotheses and were consistent with previous theoretical considerations and empirical evidence on human mating. For example, at the individual level, sociosexual orientation, traditional gender roles, and pathogen prevalence were significant predictors of both ASR-YWMS and ASR-OMWS. At the country level, gender inequality and parasite stress positively predicted the ASR-YWMS. However, being a woman negatively predicted the ASR-OMWS, but positively predicted the ASR-YWMS. At country-level, ingroup favoritism and parasite stress positively predicted the ASR-OMWS. Furthermore, significant cross-subregional differences were found in the openness to sugar relationships (both ASR-YWMS and ASR-OMWS scores) across subregions. Finally, significant differences were found between ASR-YWMS and ASR-OMWS when compared in each subregion. The ASR-YWMS was significantly higher than the ASR-OMWS in all subregions, except for Northern Africa and Western Asia

The very rare and little-known fishes along the coasts of Izmir (Aegean Sea, Turkey) in the past 40years (1969-2008)

The objective of this study was to document the frequency of occurrence of very rare fish species as well as to note the changes in diversity over time. Fish species recorded fewer than five times over the past 40years (1969-2008) from the coasts of Izmir (central Aegean Sea) were included in the account and considered as being very rare. The records are listed chronologically. Fish species recently recorded in the area for the first time are also included. Changes in qualitative and quantitative composition of the ichthyofauna along the coasts of Izmir are also discussed. © 2011 Blackwell Verlag, Berlin

On the occurrence of juvenile Thunnus thynnus in the bay of Izmir, Aegean sea, Turkey [İzmir körfezi’nde (Ege denizi, Türkiye) Jüvenil Thunnus thynnus’un bulunuşu üzerine]

Two specimens of juvenile Thunnus thynnus (Linnaeus, 1758) were caught off Urla coast in Izmir Bay, Aegean Sea by a commercial gillnet at the depth of 8 m. These juvenile tuna fishes are observed for the first time in Izmir Bay, even if the larger individuals are well-known in the area. © Published by Central Fisheries Research Institute (CFRI) Trabzon, Turkey

Gallstone ileus as an unexpected complication of cholelithiasis: Diagnostic difficulties and treatment [Kolelitiazisin beklenmedik komplikasyonu, safra taşi ileusu: Tani zorluklari ve tedavi]

PubMed ID: 20849052BACKGROUND Gallstone ileus is a rare complication of cholelithiasis, mostly in the elderly. The aim of this study was to evaluate our experience with 12 gallstone ileus cases and discuss current opinion as reported in the literature. METHODS Data of 12 patients operated between January 1998 and January 2008 with gallstone ileus were retrospectively studied. RESULTS There were 12 cases (9 F, 75%; 3 M, 25%) with a mean age of 63.6 (50-80) years. Median duration of symptoms before admission to the hospital was 4.1 (1-15) days. Preoperative diagnosis was made in only five cases (41.6%). Enterolithotomy was done in nine cases (75%). Enterolithotomy and resection of the small intestine - required for decubital necrosis from the gallstone - was performed in one case (8.3%). In one case (8.3%), enterolithotomy was completed in one stage with cholecystectomy and closure of the fistula during acute surgery, and in another case (8.3%), enterolithotomy + primary suturing of the jejunal perforation was performed. There were two (16.6%) perioperative mortalities. CONCLUSION Gallstone ileus remains a diagnostic challenge despite advances in imaging techniques, and pre-operative diagnosis is often delayed. Gallstone ileus should be suspected in all cases admitted to the emergency service with acute intestinal obstruction with a history of cholelithiasis, especially in the elderly and females

Reference intervals of ?-glycosidase, ß-glycosidase, and ?-galactosidase in dried blood spot in a Turkish newborn population

PubMed ID: 23661235Inherited lysosomal storage diseases (LSDs) are rare, and diagnosis is often delayed for 7-10 years. Since the therapies have become available for a limited number of LSDs, (Fabry, Gaucher, Pompe, and MPS-1), early diagnosis of treatable LSDs can be lifesaving or ameliorating and allows timely treatment before irreversible damage occurs. Recently, the use of dried blood spot test (DBS) for newborn screening of LSDs has been proposed for newborn screening tests. They are noninvasive, sensitive, and specific assays with the further advantage of a fast turnaround time compared to measurement in leukocyte and/or fibroblast culture. We aimed to determine the reference intervals for lysosomal enzyme activities of newborn babies in our population and to investigate the effect of gestational week on enzyme activity. One hundred thirty healthy newborn babies (70 girls, 60 boys) were included into the study. ?-Glycosidase, ß-glycosidase, and ?-galactosidase activities in DBS samples of newborns were determined fluorometrically. Reference intervals were calculated using Dixon's rule and percentiles of 2.5-97.5. Cutoff limits (5 %) for ?-glycosidase, ß-glycosidase, and ?-galactosidase activities were 0.57, 0.92, and 2.18, respectively. ?-Galactosidase activity was higher in girls compared to boys (p<0.05). Interestingly, ?-glycosidase and ß-glycosidase activities of newborns who were delivered before 38 weeks were significantly lower than those who were delivered at 39-40 weeks. Conclusion It is of utmost importance to define the reference intervals for lysosomal enzyme activities as well as cutoff limits for newborn babies with regard to gestational age and sex. More studies to clarify the reason for the change in enzyme activity by gestational week will be required.GenzymeAcknowledgments We are grateful to Genzyme Corp. for the financial support and to Sundus Ekinci for the technical support in performing the enzymatic studies. -

A patient with WT syndrome and Castleman disease

PubMed ID: 7754753WT syndrome, an autosomal dominant condition, combines hematological abnormalities with mild lib defects. Anemia, pancytopenia, leukemia and lymphoma can occur at varying ages from childhood to middle age. Limb defects include ulnar and radial defects, bifid or hypoplastic thumbs and cutaneous syndactyly. Castleman disease is characterized by tumorous masses of lymphoid tissue showing plasma cell or hyaline vascular type changes in histological specimens. A 13 year old boy, diagnosed as WT syndrome with ulnar and radial deviation and 5th finger clinodactyly also had neutropenia, cervical and mediastinal lymphadenopathy. Histology of the cervical lymph node showed angiofollicular hyperplasia of the hyaline-vascular type (Castleman disease). This interesting patient is reported because Castleman disease, together with WT syndrome has not been previously described. 1995 Japan Pediatric Societ