The Effect of Pelvic Floor Muscle Exercises on Bowel Evacuation and Quality of Life in Following Intestinal Ostomy Closure: Randomized Controlled Trial.

PURPOSE: This purpose of this study was to evaluate the effect of pelvic floor muscle exercises (PFMEs) on bowel evacuation problems and health-related quality of life (HRQOL) following ostomy closure. DESIGN: Randomized controlled trial. SUBJECTS AND SETTING: Forty individuals following ostomy closure consented to participate in the study; 6 participants (15%) did not complete the trial (2 died and 2 required a second ostomy) yielding a study sample of 34. Participants were randomly allocated to an Exercise Group (EG, n = 17) and Control Group (CG, n = 17). The mean age of the EG was 55.7 (SD 12.6) years, whereas the mean age of the CG was 62.0 (SD 12.1) years. The study setting was the surgery clinic of 4 hospitals in Ankara, Turkey. Data were collected between December 2018 and May 2020. METHODS: The study intervention, PFME training by a clinician, was administered to participants in the EG; CG participants received no information regarding PFME. Data were collected during face-to-face interviews on the day before discharge and by phone at the first, second, third, and sixth months after surgery. A questionnaire was used for data collection that queried a demographic and pertinent clinical questions, along with the Assessment Form for Bowel Evacuation Habits and Psychosocial Problems, Wexner Scale, and the Short Form (SF-36) Health-related Quality of Life Scale. Descriptive statistics and Mann-Whitney U test, t-test, Pearson-χ2 test, Fisher's Exact test, Friedman test, and Cochran-Q test statistical analysis according to normal distribution were used in data evaluation. RESULTS: The number of defecations in the EG was statistically significantly lower than the CG at the second, third, and sixth months (P = .002, P = .002, P = .001, respectively). In addition, the number of individuals experiencing night defecation was statistically significantly less in the EG compared to the CG at the second-, third-, and sixth-month follow-ups (P = .001, P = .001, P = .028, respectively). HRQOL scores were also significantly higher in the EG. CONCLUSION: Pelvic floor exercises applied after ostomy closure are effective in reducing bowel evacuation and increasing quality of life. Given these findings, PFMEs are recommended for patients after ostomy closure.

Pressure Injury Prevalence and Risk Factors: A National Multicenter Analytical Study.

PURPOSE: The purpose of this study was to determine the point prevalence (PP) of general pressure injuries (PIs), hospital-acquired PIs, PI-related risk factors, and PI preventive interventions performed by nurses. DESIGN: Descriptive, multicenter, prospective, analytical study. SUBJECTS AND SETTING: The sample comprised 5088 patients cared for in 13 hospitals in 12 geographic regions of Turkey. Data were collected between November 5, 2018, and July 17, 2019. METHODS: The study was carried out in 2 stages. First, nurses who collected data were trained in the diagnosis of PI, risk assessment, staging, and prevalence studies, and informed about the purpose and methods of the study, including data collection. Second, nurses and researchers who had received training related to data collection for this study conducted a PP study for PIs in their inpatient clinics using the ASSIST II method. The PI Prevalence Study Tool and the Braden Scale for Predicting Pressure Sore Risk were also used during data collection. RESULTS: The PP of general PIs was 9.5%; the prevalence of PIs with hospitalization in intensive care units was 43.2%; medical device-related pressure injuries prevalence was 10.7%. We found that 65.1% of the PIs were acquired after hospital admission. CONCLUSIONS: Similarities exist between PI prevalence in Turkey and reported PI prevalence rates worldwide. However, the prevalence of nosocomial PIs related to intensive care units and the prevalence of all nosocomial injuries were higher than rates previously reported. Based on results, there is a need to develop strategies to reduce the prevalence of nosocomial PIs.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) disease phenotypes. Here we describe 15 unrelated individuals who have DD and/or ID, central nervous system (CNS) dysfunction, vertebral anomalies, and dysmorphic features and were found to have probably damaging variants in DExD/H-box RNA helicase genes. In addition, these individuals exhibit a variety of other tissue and organ system involvement including ocular, outer ear, hearing, cardiac, and kidney tissues. Five individuals with homozygous (one), compound-heterozygous (two), or de novo (two) missense variants in DHX37 were identified by exome sequencing. We identified ten total individuals with missense variants in three other DDX/DHX paralogs: DHX16 (four individuals), DDX54 (three individuals), and DHX34 (three individuals). Most identified variants are rare, predicted to be damaging, and occur at conserved amino acid residues. Taken together, these 15 individuals implicate the DExD/H-box helicases in both dominantly and recessively inherited neurodevelopmental phenotypes and highlight the potential for more than one disease mechanism underlying these disorders.

Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.

Mucopolysaccharidosis (MPS) type IIIB patients present with marked neurodevelopmental and neuropsychiatric problems and not with typical MPS symptoms such as coarse facial features, organomegaly, or short body height, especially at the first presentation. We present three pediatric cases, two of which are sisters with novel NAGLU gene mutations, to emphasize that diagnosis of MPS type IIIB should be remembered in patients presenting with neurodevelopmental and neuropsychiatric problems such as delayed speech, autistic-like symptoms, severe behavioral and sleep problems, motor deterioration or idiopathic intellectual disability with or without refractory epilepsy, especially if there is aconsanguineous marriage.

Impact of tailored training about pressure injuries on nurses' knowledge levels and pressure injury point prevalence: The case of Turkey.

AIM: This study was conducted to determine the impact of tailored training provided to nurses for preventing pressure injuries (PIs) on nurses' knowledge levels and the PI point prevalence (PP). MATERIALS AND METHODS: This interventional study was carried out in a university hospital with a bed capacity of 1114 in an urban center in Turkey. Ethics committee approval (28.06.2018/31) and institutional permission were obtained for the study, in addition to the nurses' written, informed consent. The study was completed in three stages. In the first stage an initial PP study was conducted in the clinics with the participation of the nurses and the members of the research team (n = 422 patients). In the second stage the knowledge levels of 194 nurses were measured before training was given on following-up and preventing PIs. The nurses then participated in the tailored training and their knowledge levels were re-measured afterwards. All the nurses were given individual advice related to the prevention of PIs for 30 days after they had completed the training. In the third stage a second PP study was conducted four months after the first PP study (n = 454 patients). The data were collected using the Pressure Injury Prevalence Form, the Braden Pressure Ulcer Risk Assessment Tool and the Knowledge Level Measurement Form. Descriptive values, the paired samples t-test, Pearson's chi-squared test and Fisher's Exact test were used to evaluate the data. RESULTS: The nurses' pretest mean knowledge score was 55.36% ± 14.40 and their posttest mean score was 69.92% ± 9.73. The difference between these scores was statistically significant (p < 0.05). The study found no significant difference between the first PP ratio and the second PP ratio (p > 0.05), and the nurses were better able to evaluate skin and PIs after the training. CONCLUSION: The study determined that the tailored training given to the nurses increased their knowledge; however, it had no impact on the PP after four months. It is recommended that any training programs using this model be continued and that PP studies of institutions be conducted annually.

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of OI result from mutations in COL1A1 or COL1A2, which encode the chains of the type I procollagen heterotrimer. The mildest form of OI typically results from diminished synthesis of structurally normal type I procollagen, whereas moderately severe to lethal forms of OI usually result from structural defects in one of the type I procollagen chains. Recessively inherited OI, usually phenotypically severe, has recently been shown to result from defects in the prolyl-3-hydroxylase complex that lead to the absence of a single 3-hydroxyproline at residue 986 of the alpha1(I) triple helical domain. We studied a cohort of five consanguineous Turkish families, originating from the Black Sea region of Turkey, with moderately severe recessively inherited OI and identified a novel locus for OI on chromosome 17. In these families, and in a Mexican-American family, homozygosity for mutations in FKBP10, which encodes FKBP65, a chaperone that participates in type I procollagen folding, was identified. Further, we determined that FKBP10 mutations affect type I procollagen secretion. These findings identify a previously unrecognized mechanism in the pathogenesis of OI.

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population.

PURPOSE: To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population. METHODS: Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects. RESULTS: The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198-0.564, p=2.54 × 10(-5)) and XFG (OR=0.366, 95% CI: 0.219-0.611, p=8.56 × 10(-5)) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003-0.188, p=3.69×10(-9)). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45 × 10(-8)) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358-0.776, p=0.001). CONCLUSIONS: The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians.

Effectiveness of training in increasing awareness about managing pressure injuries in emergency departments.

INTRODUCTION: Emergency room conditions and the characteristics of the patients followed up pose a risk for pressure injury. AIM: This study was conducted as a pilot study to assess the effectiveness of a training program in increasing the awareness of healthcare professionals working in an emergency department about how to manage pressure injuries. METHODS: The study was a prospective, pre-test post-test intervention study without a control group. The study included 595 patients who were hospitalized in the emergency room for more than two hours and voluntarily agreed to participate, as well as 11 physicians and 17 nurses working in the emergency department between 15 April and 19 June 2019 2019. It was carried out in three stages. In the first stage, the 30-day pressure injury incidence rate in the emergency department was evaluated using the "Emergency Department Patients Information and Pressure Injury Assessment Form" and "The Braden Scale for Predicting Pressure Injury Risk". In the second stage, the healthcare professionals were given training about pressure injuries. The knowledge levels of healthcare professionals before and after the training were evaluated using "The Descriptive Characteristics Form for Emergency Department Personnel (doctors and nurses)" and "The Questionnaire for Identifying and Preventing Pressure Injury". In the third stage, the 30-day pressure injury incidence rate in the was re-evaluated after the training using the same two scales as before. The SPSS 25 package program was used to evaluate the data in terms of frequency, percentage, mean and standard deviation, and the Mann-Whitney U Test for independent groups, the t-test, the correlated sample t-test, the Wilcoxon Signed Rank test, Pearson Chi-square test, Yates Chi-square test and Fisher's Exact Chi-square test were also used. RESULTS: The mean knowledge test score of the healthcare professionals working in the emergency department was determined as X¯±SD = 53.71 ± 14.70 before the training and X¯±SD = 58.57 ± 11.83 after the training. The average score on the prevention dimension of the Questionnaire for Identifying and Preventing Pressure Injury was found to be statistically significantly higher than before the training (p < 0.05). The pressure injury incidence in the emergency department was 12.5% before the training and 8.8% afterwards. CONCLUSION: It was observed that the knowledge of healthcare professionals about pressure injury was insufficient and that training given on this topic both increased their knowledge and decreased the incidence of pressure injury. However, the difference was not statistically significant. Training about pressure injuries is important for preventing pressure injury, identifying the injury early, treating the injury appropriately and increasing the awareness of healthcare professionals.

WAGR syndrome with tetralogy of Fallot and hydrocephalus.

Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome occurs sporadically due to deletion of chromosome 11p13. A variety of other abnormalities involving different systems have been reported in patients with WAGR syndrome. We report on a patient with WAGR syndrome with accompanying tetralogy of Fallot and hydrocephalus.

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Chromosome 2q37 microdeletion syndrome is a rare disorder characterized by mild-moderate psychomotor and growth retardation, autistic-like behavior, Albright hereditary osteodystrophy-like metacarpal/metatarsal shortening, and facial characteristics. We here report on a patient with 2q37 microdeletion presenting with learning difficulty, hyperactivity and attention deficit. Physical examination revealed psychomotor and growth retardation, facial dysmorphism and brachydactyly, suggestive of Albright hereditary osteodystrophy-like phenotype. Laboratory evaluation revealed 46, XX.ish subtel(2q)(D2S447-) confirming 2q37 microdeletion. Chromosome 2q37 microdeletion syndrome should be considered in the differential diagnosis of patients presenting with psychomotor and growth retardation and an Albright hereditary osteodystrophy-like phenotype, especially in the presence of brachydactyly, even if the characteristic facial features are missing.

Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.

Wilms tumor (WT) is the most common primary renal tumor in childhood. The occurrence of WT in patients with growth retardation, mental retardation and central nervous system abnormalities in association with premature chromatid separation (PCS) and mosaic variegated aneuploidy has been previously described in only 10 patients. Here we report the very rare occurrence of WT with two other malignancies, acute myeloid leukemia and medulloblastoma in association with chromosomal instability. This is a novel presentation of Fanconi anemia with this cytogenetic abnormality.

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Recent reports have revealed the presence of subtelomeric rearrangements in 0.5-1.1% of patients with mild mental retardation and in 6.8-7.4% of patients with moderate-severe mental retardation. In the present study, 130 patients with unexplained mental retardation were tested using fluorescence in situ hybridization (FISH) analysis for the first time in a large group of Turkish patients, in order to determine the frequency of subtelomeric rearrangements. Three patients had such rearrangements. We present the clinical findings in these patients with (1) coexistent 9p subtelomeric monosomy and 4q subtelomeric trisomy, (2) 22q13.3 subtelomeric monosomy, and (3) coexistent 4p subtelomeric monosomy and 8p subtelomeric trisomy. Mild retardation without dysmorphic features in one of these patients suggests offering subtelomeric analysis to a wide spectrum of mental retardation.

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

A 10(6/12)-year-old boy was referred to the genetics department because of mental retardation and dysmorphic findings including microcephaly, flat face, down-slanting palpebral fissures, strabismus, prominent ears, bulbous nasal tip, down-turned corners of the mouth, narrow palate, clinodactyly of the fifth fingers and generalised eczema. Cytogenetic analysis revealed a karyotype of 47,XY,+mar of paternal origin. Multicolour FISH showed the marker chromosome to be derived from chromosome 15. For further elucidation of the phenotype, array-based comparative genomic hybridisation (aCGH) was performed, which revealed dup(5)(q35.2qter) and del(1)(p36.3). Parental FISH analysis revealed that the translocation occurred de novo. Despite the presence of a clinical phenotype along with a microscopically visible chromosomal aberration, a complex cryptic cytogenetic abnormality was causative for the phenotype of the patient. Elucidation of this complex aberration required combination of the whole cytogenetic toolbox.

Congenital dysgranulopoietic neutropenia.

We investigated a 15-year-old female with congenital dysgranulopoietic neutropenia (CDN) and her non-neutropenic mother who had recurrent stomatitis. In both patients, cells of the neutrophilic, eosinophilic, monocytic, megakaryocytic, and basophilic series were dysmorphic. Plasmacytoid lymphocytes and mild megaloblastic erythroid precursors were present. Bleeding times of both patients were prolonged. The mother had a secondary aggregation defect; the number of the plasmacytoid lymphocytes, dense granules of platelets, and dysmorphic neutrophils, neutrophil chemotaxis, and myeloperoxidase content fluctuated according to the presence or not of aphthae. The daughter's karyotype revealed 46,XX/46,XX, t(1;8). No ELA2 or G-CSFR mutation was detected. These findings support stem cell involvement in CDN.

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.

Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Pseudo-trisomy 13 is defined in chromosomally normal patients with holoprosencephaly and associating features suggestive of trisomy 13. An autosomal recessive pattern of inheritance for this situation is most likely, but a gene for this condition has not yet been mapped. A fetus is presented with phenotypic features reminiscent of trisomy 13 but a normal karyotype, 46, XY. The pregnancy was terminated due to severe fetal malformations. In autopsy, the fetus had semilobar holoprosencephaly, hydrocephaly and dysmorphic features such as hypotelorism, cleft lip, a flat nose with a single nostril, low-set ears, postaxial polydactyly in all extremities, left unilateral pes equinovarus and pulmonary segmentation defect on the right. The parents were 2nd cousins once removed. Holoprosencephaly and polydactyly with or without other findings in chromosomally normal patients should raise the suspicion of pseudo-trisomy 13 syndrome, particularly when parental consanguinity is present.

Function in unaffected arms of children with obstetric brachial plexus palsy.

OBJECTIVE: The objective is to compare the fine and gross motor function of unaffected arms of children with obstetric brachial plexus palsy (OBBP) with typically developing children's dominant upper extremities. METHODS: Fifty-three patients with OBBP and fifty-one typically developing children between the age of 4 and 13 were included in the study. For gross motor function evaluation in the upper extremity box-block test (BBT), for fine motor skill nine-hole peg (9HP) test was used. For grasp and pinch strength measurements, a Jamar dynamometer is used. RESULTS: The patient group performed significantly worse in 9HP and BBT tests. When further divided into age groups, 4-8 age patient group performed significantly worse in 9HP and BBT tests, while there were no differences in children in the 9-13 age group. CONCLUSIONS: The fine and gross motor functions of the unaffected arms of children with OBPP are significantly worse in children between the ages of four and eight but this deficit improves with age, and possibly with ongoing therapy.

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

OBJECTIVE: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation carriers. STUDY DESIGN: FMR1 premutation is the single most common genetic cause of POI (FXPOI). Fragile X Registry at Hacettepe University has been reviewed for the frequency of FXPOI among female premutation carriers. Since 1991 when FMR1 testing was available, 760 individuals from 243 families have been registered. Actual data on menstrual status of female premutation carriers were gathered and analysed. RESULTS: Among 314 premutation-bearing females in the cohort, 268 could be reached for an update of their menstrual history; 107 adults were 40 or younger and 156 were older than 40 years of age, whereas the remaining 5 patients were prepubertal. Among 263 postpubertal females with premutations, 90 women stopped menstruating before or at 40 years of age (premature ovarian failure - POF), constituting 34.2% of our cohort. Additionally, one carrier of a gray zone allele experienced FXPOI. History of twinning was present once in 18 women (5.7%) and twice in two women (0.6%), one of the latter interestingly bearing a full-mutation. CONCLUSIONS: FXPOI rates in the present cohort are higher than those reported in other populations. Higher FXPOI rates in Turkish premutation carriers might be a reflection of younger mean menopause age and higher POI rates in otherwise healthy Turkish women. Since POI is much more frequent among premutation carriers than in general population, testing for CGG repeat expansions in FMR1 should be included in the work-up.