Villarreallindberg9895
d according to the colectomy type. Ongoing and potentially unnecessary pharmacological therapy was seen in up to 30% of patients. These findings can inform patients and decision-makers of potential benefits and burdens of colectomy in UC.
Bi-allelic mutations in the
cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by nonautoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.
Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of
. Mutations were classified according to results of “
” analyses, protein prediction, and functional consequences.
Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in
. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.
Our study expands the mutation spectrum of
mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.
Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.
The aim of this study was to assess the quality of life (QoL) and psychological well-being in child and adolescent with disorders of sex development (DSD).
Sixty-two cases, aged 2-18 years, who were followed by a multidisciplinary DSD team were included. All participants and their parents were requested the complete the Pediatric Quality Of Life Inventory (PedsQL) and the Strengths and Difficulties Questionnaire. The psychiatric diagnoses of the patients were evaluated according to Schedule for Affective Disorders and Schizophrenia for School-Age Children/Present and Lifetime Turkish Version.
There was no significant difference between the 46,XX DSD and 46,XY DSD groups for both child and parent in Total PedsQL score. In the subscale scores, the PedsQL Physical Functionality Score reported by children was significantly lower for the 46,XX DSD group than for the 46,XY DSD group (p=0.01). There was a psychiatric diagnosis in 25.8% of cases. The PedsQL School Functionality Score reported by children in the group with psychiatric diagnosis was significantly lower than the group without psychiatric diagnosis (p=0.018). In the group with psychiatric diagnosis, the PedsQL Total Score and the subscale scores (Emotional Functionality Score, Social Functionality Score, School Functionality) reported by parents were significantly lower than in parents of the group without psychiatric diagnosis.
This study emphasized that psychiatric disorders in DSD patients negatively affect the QoL. Psychiatric support and counseling from a multidisciplinary team are very important for families affected by DSD.
This study emphasized that psychiatric disorders in DSD patients negatively affect the QoL. Psychiatric support and counseling from a multidisciplinary team are very important for families affected by DSD.
In Algeria, there is a lack of epidemiological data concerning childhood type 1 diabetes (T1D). The International Diabetes Federation estimated in 2019 that Algeria ranked 7
among countries with the highest prevalence of T1D. This study aimed to determine the incidence of T1D in children <15 years, living in Tlemcen in Northwest Algeria.
A retrospective study using data from children (<15 years) who have been diagnosed with T1D in Tlemcen between 2015 and 2018, using the two-source capture–recapture method to estimate the completeness of ascertainment (%). Total average incidences, by sex, by onset age group, and by season of onset were calculated
100,000 and
year.
During the study period, 437 new cases of T1D were registered, among them, 233 boys and 204 girls, with a sex ratio of 1.14. The average annual incidence rate of childhood T1D was 38.5/100,000 with a 95% confidence interval (CI) 35.20-41.79; boys 40.51, 95% CI 38.16-42.85; girls 36.49, 95% CI 34.17-38.80. Overall incidence rates in 2015, 2016, 2017 and 2018 were respectively 36.6 (95% CI 33.72-39.48), 38.7 (95% CI 35.43-41.97), 39.3 (95% CI 35.97-42.62) and 39.5 (95% CI 36.12-42.87)/100,000. Newly diagnosed children were more likely to present in winter and autumn. Ketoacidosis at diagnosis was diagnosed in 29.2%.
The mean incidence of childhood T1D in Tlemcen was 38.5/100,000, this incidence is in the “extremely high” category of the World Health Organization DiaMond project classification of diabetes giving this region a very high risk.
The mean incidence of childhood T1D in Tlemcen was 38.5/100,000, this incidence is in the “extremely high” category of the World Health Organization DiaMond project classification of diabetes giving this region a very high risk.
Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified.
Patients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail.
Seventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent sympto to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.
School is the place, identified with a noticeable risk of Traumatic Dental Injuries (TDI) in children which have functional, esthetic and psychological effects.
To assess the preparedness of concerning traumatic dental injuries and their management among school teachers and also to empower the clinician to frame a set of instructions for school teachers to handle the emergencies effectively at the site of the incident.
A cross-sectional study was conducted among 330 school teachers enrolled in government and private schools of 24 randomly selected schools in Bhubaneswar city. A self-administered questionnaire was distributed to collect information on participants demographic characteristics, knowledge, attitude and practice about emergency management of Traumatic Dental Injury. Chi-square test with level of significance set at 5% was used for statistical analysis.
Statistically significant (p<0.05) correct responses were provided by 66.7% males and 35.6% females and 100% younger age teachers. Larger population perceived that their level of knowledge was not satisfactory as they responded for inadequate and don't know options which was significant in relation to gender and age (p<0.05) but not with respect to the type of school (p>0.05). All the respondents expressed the need for a training program.
This study highlights the instantaneous need for tailor made dental health educational and preventive programs for school teachers in order to effectively manage the Traumatic Dental Injuries.
This study highlights the instantaneous need for tailor made dental health educational and preventive programs for school teachers in order to effectively manage the Traumatic Dental Injuries.A paucity of real-world data exists highlighting whether variations in prostate cancer quality of care occur at a hospital level, independent of differences in case mix. To overcome this knowledge gap, we benchmarked hospital-level quality (n = 1245 hospitals) across a broad multidisciplinary panel of previously reported disease-specific, expert-defined quality indicators (QIs), adjusting for differences in patient case mix by indirect standardization. A composite measure of prostate cancer quality-the prostate cancer quality score (PC-QS)-was derived, and associations between PC-QS and hospital volume, academic status, and location as well as patient all-cause mortality were determined. After adjusting for the case mix, of the total of 1245 hospitals evaluated, 2-37% were identified as those performing significantly below the national average for a given QI. Hospitals with a higher PC-QS displayed larger patient volumes, were more commonly academic affiliated, and had lower overall mortality. Collectively, our data-driven benchmarking analysis reveals that widespread hospital-level variations exist in prostate cancer quality of care after adjusting for differences in case mix, with the PC-QS serving as a novel, validated, quality benchmarking tool. PATIENT SUMMARY Our statistical benchmarking method shows that the quality of prostate cancer care varies between hospitals, after accounting for differences in patient characteristics. The prostate cancer quality score is a novel, validated, quality benchmarking tool.Tivozanib is a potent and selective inhibitor of the VEGF receptor. In an open-label, randomized phase 3 trial, we compared tivozanib to sorafenib in patients with metastatic renal cell carcinoma (mRCC) who had received two or three prior therapies. We have previously reported that the study met its primary endpoint, demonstrating an improvement in progression-free survival with tivozanib versus sorafenib (5.6 mo vs 3.9 mo; hazard ratio [HR] 0.73, 95% confidence interval [CI] 0.56-0.94; p=0.016). The current report reflects the final assessment of overall survival, showing no difference between treatment with tivozanib and sorafenib (HR 0.97, 95% CI 0.75-1.24). Given its activity and distinct tolerability profile, tivozanib represents a treatment option for patients with previously treated mRCC. PATIENT SUMMARY We show that tivozanib, a targeted therapy, can delay tumor growth relative to an already approved targeted therapy (sorafenib) in patients with kidney cancer who have received two or three prior treatments. No difference in survival was observed.
The majority of cancer patients report malnutrition, with a significant impact on patient's outcome. This study aimed to compare how nutritional assessment is conducted across different surgical oncology sub-specialties.
Survey modules were designed for breast, hepato-pancreato-biliary (HPB), upper-gastrointestinal (UGI), sarcoma, peritoneal and surface malignancies (PSM) and colorectal cancer (CRC) surgeries to describe 4 domains participants' setting, evaluation of clinical factors, use of screening tools and clinical practice. Results were compared among sub-specialties and according to human development index (HDI) in the largest cohorts.
Out of 457 answers from 377 global participants (62% European), 35.0% were from breast and 28.9% were from CRC surgeons. Although MDTs management is consistently reported (64-88%), the presence of a nutritionist/dietician ranges from 14.1% to 44.2%. Breast surgeons seldom evaluate albumin (25.6%) and weight loss (30.6%), opposite to HPB, PSM and UGI groups (>70%, p 0.
