Alterations induced by Colomerus vitis on the structural and physiological leaf features of two grape cultivars.

Vitis vinifera is cultivated worldwide for its high nutritional and commercial value. More than 60 grape cultivars are cultivated in Chile. Two of these, the país and the corinto cultivars, are the oldest known and widely used for the preparation of traditional homemade drinks and consumption as table grapes. These two grape cultivars are affected by Colomerus vitis, an eriophyid mite which establishes on their leaves and forms erinea, where the mite and its offspring obtain shelter and food. Although C. vitis has a cosmopolitan distribution, few studies of its impact on the structure and physiology of affected plants have been reported. Herein we aimed to evaluate the impact of C. vitis infection on the structural and physiological leaf performance of the two grape cultivars. The results showed tissue hyperplasia and cell hypertrophy in the epidermis, with an overproduction of trichomes and emergences in the abaxial epidermis in both cultivars. The anatomical changes were similar between the país and corinto cultivars, but they were proportionally greater in the país, where the area affected by the erinea were greater. No significant changes were detected in the photosynthetic pigment content; however, there was an increase in the total soluble sugars content in the erineum leaves of the país cultivar. Higher contents of anthocyanins and total phenols, as well as the presence of the pinocembrin in the corinto cultivar, which was less affected by C. vitis, could also indicate some resistance to mites' attack, which should be investigated in future studies.

Multimodal assessments of preterm temperament across the first year of life: Continuity, stability, and moderation by country of origin and infant age.

There is limited research regarding the continuity, stability, and role of country of origin in preterm infant temperament across the first year of life. This prospective longitudinal study examined patterns of mean-level continuity and individual-differences stability of select scales of temperament at 6 and 12 months in preterm infants from three countries, Chile (n = 47), United Kingdom (n = 44), and United States (n = 50). Temperament was assessed with the Infant Behavior Questionnaire and observed using the Bayley Behavior Rating Scale. Continuity and stability across infant age, country effects, and interactions of country and age on preterm infant temperament were examined. Chilean mothers rated infants higher in soothability, duration of orienting, and orientation/engagement compared with mothers from the United Kingdom and/or United States. Continuity of temperament from 6 to 12 months varied by country: Chilean mothers reported increasing smiling and laughter and activity level from 6 to 12 months, and mothers from the United Kingdom reported decreasing smiling and laughter and increasing fear from 6 to 12 months. Infant temperament was stable in all three countries. Correlations evidenced low concordance between maternal reports and examiner observations of infant temperament at 12 months. However, among Chilean infants, higher maternal reported activity level was associated with higher examiner observed orientation/engagement score.

Hay una limitada investigación acerca de la continuidad, la estabilidad y el papel del país de origen en el temperamento de infantes nacidos prematuramente a lo largo del primer año de vida. Este potencial estudio longitudinal examinó patrones de continuidad en el promedio de nivel y las diferencias individuales en cuanto a la estabilidad de selectas escalas de temperamento a los 6 y 12 meses en infantes prematuros de tres países, Chile (n = 47), Reino Unido (n = 44) y Estados Unidos (n = 50). El temperamento se evaluó con el Cuestionario de Comportamiento del Infante y el mismo se observó usando la Escala de Puntuación del Comportamiento de Bayley. Se examinaron la continuidad y la estabilidad a lo largo de la edad del infante, los efectos del país, así como las interacciones entre país y edad en el temperamento de los infantes prematuros. Las madres chilenas evaluaron a sus infantes con más altos puntajes en cuanto a posibilidad de tranquilizarlos, duración de orientarlos y la orientación/participación en comparación con madres del Reino Unidos y/o de Estados Unidos. La continuidad de temperamento de los 6 a 12 meses varió según el país: las madres chilenas reportaron aumento en la sonrisa y la risa, y el nivel de actividad de los 6 a 12 meses, y las madres del Reino Unido reportaron una disminución en la sonrisa y la risa, y un aumento en el temor de los 6 a 12 meses. El temperamento del infante fue estable en los tres países. Las correlaciones son evidencia de la concordancia entre los reportes maternos y las observaciones del examinador del temperamento del infante a los 12 meses. Sin embrago, entre los infantes chilenos, el más alto nivel de actividad reportado por las madres se asoció con un más alto puntaje del examinador en cuanto a la observada orientación/participación.

Nous n'avons que des recherches limitées sur la continuité, la stabilité et le rôle du pays d'origine dans le tempérament du bébé prématuré au fil de la première année de la vie. Cette étude longitudinale prospective a examiné les modèles de continuité au niveau moyen et la stabilité des différences individuelles de certaines échelles de tempérament à 6 et à 12 mois chez les enfants prématurés de trois pays, le Chili (n = 47), le Royaume Uni (n = 44) et les Etats-Unis d'Amérique (n = 50). Le tempérament a été évalué au moyen du Questionnaire du Comportement du Nourrisson et observé en utilisant l'Echelle de Bailey d'Evaluation du Comportement du Nourrisson. La continuité et la stabilité au travers de l'âge du nourrisson, les effets du pays et les interactions du pays et de l'âge sur le tempérament du bébé prématuré ont été examinés. Les mères chiliennes ont évalué leurs bébés plus haut pour ce qui concernait la capacité à être calmé, la durée de l'orientation et l'orientation/l'engagement par comparaison aux mères du Royaume Uni et/ou des Etats-Unis. La continuité du tempérament de 6 à 12 mois a varié par pays: les mères chiliennes ont fait état de plus de sourires et de rires et d'un niveau d'activité plus élevé de 6 à 12 mois et les mères du Royaume Uni ont fait état d'une décroissance des sourires et des rires et d'une plus grande peur de 6 à 12 mois. Le tempérament du nourrisson était stable dans les trois pays. Les corrélations ont montré une concordance faible entre les rapports maternels et les observations de l'examinateur du tempérament du nourrisson à 12 mois. Cependant, chez les enfants chiliens, un niveau d'activité plus élevé rapporté par la mère était lié à un score d'orientation/d'engagement observé plus élevé de la part de l'examinateur.

Incidence of Melanoma in the Basque Province of Álava, Spain, From 2015 to 2018: A Descriptive Study. / Estudio descriptivo de los pacientes diagnosticados de melanoma en la provincia de Álava (País Vasco) entre los años 2015 y 2018.

INTRODUCTION: The incidence of cutaneous melanoma is rising fast, and its prevalence has doubled in the past 3 decades. Detailed local epidemiological information is essential for informing community-based prevention strategies and optimizing hospital resources. MATERIAL AND METHODS: We included all patients diagnosed with cutaneous melanoma at Hospital Universitario Araba in the Basque province of Álava, Spain, between January 2015 and December 2018. We described clinical and pathologic characteristics and calculated annual incidence rates adjusted to the European standard population. RESULTS: A total of 242 new cases of melanoma were diagnosed between 2015 and 2018. The age-standardized annual incidence rose from 12.92 cases per 100 000 population in 2015 to 18.30 cases per 100 000 population in 2018. CONCLUSIONS: The incidence of melanoma in our area is higher than that reported for Spanish series in 2017 and 2018. Lentigo maligna accounted for a high proportion of cases and was the second largest histologic subgroup.

The double posteromedial portals endoscopy for posterior ankle impingement syndrome in athletes.

BACKGROUND: Posterior ankle impingement syndrome (PAIS) may result from flexor hallucis longus tendinopathy, compression of the posterior process of the talus from the presence of an os trigonum, soft-tissue impingement, or a combination of these. Posterior extra-articular endoscopy performed with the patient supine through the double posteromedial portals, with excision of adhesions, excision of the posterior process of the talus or an os trigonum, and decompression of the tendon of the flexor hallucis longus (FHL), can be used in athletes with PAIS. METHODS: Thirty-four athletes with PAIS in whom conservative management had failed underwent posterior ankle endoscopy in the supine position using the double posteromedial portals. The patients were assessed pre- and postoperatively using the American Orthopaedic Foot and Ankle Society hindfoot scale score, the Tegner scale, and the simple visual analogue scale. Time of surgery, return to sports, patient satisfaction, and complications were recorded and analysed. The average length of postoperative follow-up was 26.7 ± 12.6 (range 24 to 72) months. RESULTS: The mean Tegner activity scale score improved to 9 ± 0.2 postoperatively (p < 0.05), while the mean American Orthopaedic Foot and Ankle Society scale score improved to 96 ± 5.1 (range 87 to 100) postoperatively, with 29 of 34 patients (85.3%) achieving a perfect score of 100 (p < 0.05). The mean time to return to sports was 8.7 ± 0.7 (range 8 to 10) weeks. The complication rate was low, with no superficial wound infections or venous thromboembolism events; only two patients (5.9%) reported pain and tenderness by 3 months after the index procedure. CONCLUSION: Posterior ankle endoscopy for the resection of a posterior process of the talus or an os trigonum and decompression of the tendon of FHL is safe and allows excellent outcomes with low morbidity in athletes with PAIS.

Posterior Ankle Decompression With Os Trigonum or Stieda Process Resection in Dancers: Case Series Report and Review of the Literature.

This case series reports the outcome of posterior ankle decompression and os trigonum or Stieda process resection utilizing an open posterolateral approach in 54 professional, pre-professional, and dedicated recreational dancers. All procedures were performed by a single surgeon at the same facility between 2008 and 2018. The surgical technique is described in detail. Data related to results of the surgery were gathered via follow-up questionnaire and verified by referencing the patients' medical records. Outcomes were self-assessed in terms of categories ranging from excellent through moderate to poor. Eighty-nine percent of the dancers (N = 48 of 54) chose excellent or good, 11% (N = 6) chose moderate, and none selected poor. These results were compared with those achieved in 17 previous studies reporting the use of both open (posterolateral and posteromedial) and arthroscopic/endoscopic techniques in dancers. This comparison found similarly favorable reported outcomes, but also great variation in methodology for determining patient reported outcomes (PROs). While the preferred surgical technique for posterior ankle decompression remains controversial, the open posterolateral approach utilized in this series resulted in high expectation of return to dance with minimal complications. The need for a dancer-specific PRO tool is discussed.

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome.

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome (PAIS) and lacking AR mutations. The whole exome sequencing of the patient and his family members identified a heterozygous FKBP4 gene mutation, c.956T>C (p.Leu319Pro), inherited from the mother. The gene encodes FKBP prolyl isomerase 4, a positive regulator of the AR signaling pathway. This is the first report describing a FKBP4 gene mutation in association with a human disorder of sexual development (DSD). Importantly, the dysfunction of a homologous gene was previously reported in mice, resulting in a phenotype corresponding to PAIS. Moreover, the Leu319Pro amino acid substitution occurred in a highly conserved position of the FKBP4 region, responsible for interaction with other proteins that are crucial for the AR functional heterocomplex formation and therefore the substitution is predicted to cause the disease. We proposed the FKBP4 gene as a candidate AIS gene and suggest screening that gene for the molecular diagnosis of AIS patients lacking AR gene mutations.

General and specific factors of working alliance in parent training: A bifactor exploratory structural equation modelling approach.

The Working Alliance Inventory Short form (WAI-S) comprises 12 items that measure 3 subdomains (goal, task, and bond). In the present study, we evaluated the factor structure of WAI-S in a parent management training (PMT) context, by investigating a series of different factor models, including standard confirmatory factor analyses (CFA) models and more recent alternatives, like the exploratory structural equation model (ESEM), the bifactor-CFA, and the bifactor exploratory structural equation model (B-ESEM). The study sample consisted of 259 Norwegian parents receiving PMT - the Oregon model (PMTO). Alliance was rated by parents of children with emerging or present conduct problems after the first therapy session. Results showed that the B-ESEM model provided best model fit to the data. Estimated sources of variance and omega reliabilities supported a strong general alliance factor, but revealed poor quality of the specific factors. Overall, the present study implies that specific factors of working alliance should be interpreted with caution; rather one should rely on a general working alliance construct. Clinical or methodological significance of this article: Findings suggest that working alliance, as measured by WAI-S in a PMT context, is best reflected by a general construct that also take into account multidimensionality. However, only the general factors provide acceptable reliability. Consequently, practitioners should use the specific factors with caution. The indicators of the specific factors should be improved.

Volatile composition of Carignan noir wines from ungrafted and grafted onto País (Vitis vinifera L.) grapevines from ten wine-growing sites in Maule Valley, Chile.

BACKGROUND: Carignan noir is one of the minor and ancient varieties from the Chilean wine scenario that has had a resurgence as a result of to its rediscovered oenological potential when cultivated under the conditions of the interior dryland area. Under these growing conditions Carignan noir wines stand out as fruit driven and fresh compared to those originating from other growing areas. On the other hand, it is well known that wine aroma composition depends mainly on variety, viticultural management and winemaking. Thus, the present study aimed to investigate the volatile composition of wines from Carignan noir grapes originating from ungrafted and grafted onto País grapevines, in ten sites of the Maule Valley (Chile) during two consecutive vintages. RESULTS: Higher alcohols were the most abundant volatile compounds, whereas ethyl esters and ß-damascenone were the most odoriferous compounds according to their odorant activity value. The dominant factor in Carignan noir wine volatile composition was season, whereas rootstock did not have a significant effect in differentiating the wines. In terms of climate, cold nights during the month prior to harvest correlated with higher linalool, α-terpineol and trans-3-hexen-1-ol content. The biologically effective degree-days index was inversely correlated with isoamyl acetate and 2-phenylethyl acetate content. Huglin's heliothermal and the average mean temperature of the warmest month indices were inversely correlated with ethyl vanillate, ethyl hexanoate and ethyl octanoate content. CONCLUSION: Site climate conditions were related to the accumulation of certain wine volatile compounds. This information may be useful for devising new Carignan noir vineyard management strategies when aiming to improve wine quality or adjust site selection approaches to maximize grape/wine volatile composition according to wine style. © 2018 Society of Chemical Industry.

Psychosocial Adjustment to Illness Scale: Factor structure, reliability, and validity assessment in a sample of Greek breast cancer patients.

The study and measurement of psychosocial adjustment is important for evaluating patients' well-being, and assessing the illness's course, treatment's success, and patients' recovery. In this study, internal consistency reliability and construct validity of the Greek version of the Psychosocial Adjustment to Illness Scale-Self-Report (PAIS-SR) were examined. Demographic and psychosocial data were collected from a sample of 243 women with breast cancer, recruited from September 2011 to December 2012. With some exceptions in specific items, the original conceptually-derived PAIS-SR subscales emerged in a seven-factor solution. Social Environment, Job and Household Duties, and Psychological Distress accounted for more of the total variance than other subscales. PAIS-SR showed good internal consistency reliability, with Cronbach's alpha coefficients >0.62. Correlations of PAIS-SR domains with measures of quality of life and posttraumatic stress symptoms supported the convergent validity of the PAIS-SR and its significance for cancer research. The Greek version of the PAIS-SR has acceptable internal consistency reliability and construct validity, as well as satisfactory convergent validity. Results provide some suggestions for the development of programs to evaluate adjustment status and implement psychosocial interventions among breast cancer survivors.

[Research within the reach of Osakidetza professionals: Primary Health Care Research Program]. / La investigación al alcance de los profesionales de Osakidetza: Programa de Investigación en Atención Primaria de Salud.

OBJECTIVE: To provide information about the process and results of the Primary Health Care Research Program 2010-2011 organised by the Primary Care Research Unit of Bizkaia. DESIGN: Descriptive study. SETTING: Osakidetza primary care. PARTICIPANTS: The 107 health professionals who applied for the program from a total of 4,338 general practitioners, nurses and administrative staff who were informed about it. MAIN MEASURES: Application level, research topics classification, program evaluation by participants, projects funding and program costs. RESULTS: Percentage who applied, 2.47%; 95% CI 2.41-2.88%. Of the 28 who were selected and 19 completed. The research topics were mostly related to the more common chronic diseases (32%), and prevention and health promotion (18%). Over 90% of participants assessed the quality of the program as good or excellent, and half of them considered it as difficult or very difficult. Of the18 new projects generated, 12 received funding, with 16 grants, 10 from the Health Department of the Basque Government, 4 from the Carlos III Institute of Health of the Ministry of Health of Spain, and 2 from Kronikgune. A total of €500,000 was obtained for these projects. This program cost €198,327. CONCLUSIONS: This experience can be used by others interested in the promotion of research in primary care, as the program achieved its objectives, and was useful and productive.

The Largest Paracentric Inversion, the Highest Rate of Recombinant Spermatozoa. Case Report: 46,XY, inv(2)(q21.2q37.3) and Literature Review.

Carriers of inversions involving euchromatic regions are at risk of having unbalanced offspring due to meiotic crossover. In carriers, recombination can occur during gametogenesis and cause genetically unbalanced sperm and subsequently unbalanced embryos. Here we present segregation analysis results of an infertile male with 46,XY,inv(2) (q21.2q37.3) using fluorescent in situ hybridization (FISH) on sperm cells. This is the largest paracentric inversion (PAI) reported so far in a meiotic segregation analysis study. Sperm FISH revealed 28.0% recombinant spermatozoa rate for chromo-some 2, which was the highest rate in PAI carriers in the literature. Our results indicate a clear correlation between the size of the inverted segment and the frequency of the recombinant spermatozoa. The results of the FISH analysis with the information of unbalanced spermatozoa rate can provide accurate counseling on the genetic risk of infertility.

Investigation of genomic and pathogenicity characteristics of Streptococcus suis ST1 human strains from Guangxi Zhuang Autonomous Region (GX) between 2005 and 2020 in China.

Streptococcus suis is a significant and emerging zoonotic pathogen. ST1 and ST7 strains are the primary agents responsible for S. suis human infections in China, including the Guangxi Zhuang Autonomous Region (GX). To enhance our understanding of S. suis ST1 population characteristics, we conducted an investigation into the phylogenetic structure, genomic features, and virulence levels of 73 S. suis ST1 human strains from GX between 2005 and 2020. The ST1 GX strains were categorized into three lineages in phylogenetic analysis. Sub-lineage 3-1a exhibited a closer phylogenetic relationship with the ST7 epidemic strain SC84. The strains from lineage 3 predominantly harboured 89K-like pathogenicity islands (PAIs) which were categorized into four clades based on sequence alignment. The acquirement of 89K-like PAIs increased the antibiotic resistance and pathogenicity of corresponding transconjugants. We observed significant diversity in virulence levels among the 37 representative ST1 GX strains, that were classified as follows: epidemic (E)/highly virulent (HV) (32.4%, 12/37), virulent plus (V+) (29.7%, 11/37), virulent (V) (18.9%, 7/37), and lowly virulent (LV) (18.9%, 7/37) strains based on survival curves and mortality rates at different time points in C57BL/6 mice following infection. The E/HV strains were characterized by the overproduction of tumour necrosis factor (TNF)-α in serum and promptly established infection at the early phase of infection. Our research offers novel insights into the population structure, evolution, genomic features, and pathogenicity of ST1 strains. Our data also indicates the importance of establishing a scheme for characterizing and subtyping the virulence levels of S. suis strains.

Perinatal arterial ischemic stroke: how informative is the placenta?

Neuroplacentology is an expanding field of interest that addresses the placental influence on fetal and neonatal brain lesions and on further neurodevelopment. The objective of this study was to clarify the link between placental pathology and perinatal arterial ischemic stroke (PAIS). Prior publications have reported different types of perinatal stroke with diverse methodologies precluding firm conclusions. We report here the histological placental findings in a series of 16 neonates with radiologically confirmed PAIS. Findings were grouped into 3 categories of lesions: (1) inflammation, (2) placental and fetal hypoxic lesions, and (3) placentas with a high birthweight/placenta weight ratio. Matched control placentas were compared to the pathological placentas when feasible. The eight term singleton placentas were compared to a series of 20 placentas from a highly controlled amniotic membrane donation program; in three twin pregnancies, the placental portions from the affected twin and unaffected co-twin were compared. Slightly more than half (9/16, 56%) had histopathological features belonging to more than one category, a feature shared by the singleton control placentas (13/20, 65%). More severe and extensive lesions were however observed in the pathological placentas. One case occurring in the context of SARS-CoV-2 placentitis further expands the spectrum of COVID-related perinatal disease. Our study supports the assumption that PAIS can result from various combinations and interplay of maternal and fetal factors and confirms the value of placenta examination. Yet, placental findings must be interpreted with caution given their prevalence in well-designed controls.

Adult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy.

This patient, now in her 40s, was evaluated because of genital ambiguity and diagnosed with pAIS in infancy based upon elevated testosterone and gonadotropin levels and significantly reduced binding affinity of the androgen receptor. Such reduced binding is consistent with a structural abnormality of the receptor protein precluding expected activity of the androgen receptor. Based on this information and counseling, her parents chose a female sex assignment. She had clitoral recession and testes removal as an infant and neovaginal surgery using a distal ileum segment at age 11 years and was begun on estrogen therapy at age 12 years. She is being reported now to point out that the data known at her birth provided as specific information to guide sex assignment and genital surgery as is currently available. More importantly, long-term outcome data is very positive showing clear female gender identity, successful marriage of more than 20 years, excellent social relationships including family and friends, an active social life. Since this diagnosis is lifelong, it is inevitable that there will be reminders, hopefully rare, that may be traumatizing. Unfortunately, in this patient, such reminders have been related to access to health care.

New-Onset Chronic Musculoskeletal Pain Following COVID-19 Infection Fulfils the Fibromyalgia Clinical Syndrome Criteria: A Preliminary Study.

New-onset chronic musculoskeletal (MSK) pain (>3 months duration) is a common symptom of post-COVID-19 syndrome (PCS). This study aimed to characterise new-onset chronic MSK pain in patients with PCS and its overlap with Fibromyalgia Syndrome (FMS). We enrolled patients with new-onset chronic MSK pain post-COVID-19 and assessed the nature of the pain and associated symptoms using the C19-YRS (Yorkshire Rehabilitation Scale). The FMS assessment was conducted as part of a standard clinical examination using the American College of Rheumatology (ACR) 2010 criteria: (1) Widespread Pain Index (WPI) ≥ 7 and symptoms severity (SS) score ≥ 5, or WPI between 3 and 6 and SS score ≥ 9, (2) symptoms consistent for at least 3 months, and (3) no alternative diagnosis. Of the eighteen patients (average age 49.6 (SD 11.8) years; BMI 31.7 (SD 8.6)), twelve were female. The average symptom duration was 27.9 (SD 6.97) months post-infection. Thirteen patients (72.2%) met the FMS criteria, with an average WPI score of 8.8 and an average SS score of 8.2, indicating a high level of pain and significant quality of life impacts. These findings support the hypothesis that FMS may develop as a long-term sequela of a viral infection, underscoring the need for further research into post-viral long-term conditions.

Shaping the curve from the microscopic transsphenoidal to the endoscopic endonasal approach for the sellar region.

OBJECTIVE: This study aimed to investigate the limitations, barriers, and complications in the early transition from the microscopic transsphenoidal approach (MTA) to the endonasal endoscopic approach (EEA) to the skull base in our institution. METHODS: Technical challenges, as well as clinical features and complications, were compared between MTA, EEA, and mixed cases during the early surgical curve. RESULTS: The period from the early learning curve was 1 year until the EEA protocol was used routinely. A total of 34 patients registered a resection using a transsphenoidal approach. Eighteen patients underwent EEA, 11 underwent MTA, and five underwent a mixed endonasal and microscopic approach. Non-significant differences were found in endocrine outcomes between the three groups. Patients with unchanged or improved visual function were higher in the EEA group (p = 0.147). Non-significant differences were found in terms of the extent of resection (EOR) between groups (p = 0.369). Only 1 (2.9%) patient in the whole series developed a post-operative CSF leaking that resolved with medical management, belonging to the EEA group (5.5%). CONCLUSIONS: The early phase of the learning curve did not affect our series significantly in terms of the EOR, endocrine status, and visual outcomes.

OBJETIVO: Investigar las limitaciones, las barreras y las complicaciones en la transición del abordaje transesfenoidal microscópico (ATM) al abordaje endonasal endoscópico (AEE) para la base del cráneo en nuestra institución. MÉTODO: Se compararon las características clínicas y las complicaciones entre ATM, AEE y casos mixtos durante la curva quirúrgica temprana. RESULTADOS: El periodo desde la curva de aprendizaje inicial fue de 1 año hasta que se utilizó el protocolo AEE de forma sistemática. Un total de 34 pacientes tuvieron una resección por vía transesfenoidal. A 18 pacientes se les realizó AEE, a 11 ATM y a 5 abordaje mixto endonasal y microscópico. Se encontraron diferencias no significativas en los resultados endocrinos entre los tres grupos. Los pacientes con función visual sin cambios o mejorada fueron más en el grupo AEE (p = 0.147). No se encontraron diferencias significativas respecto a la extensión de la resección (p = 0.369). Solo 1 (2.9%) paciente desarrolló una fístula de líquido cefalorraquídeo que se resolvió con manejo médico, perteneciente al grupo AEE (5.5%). CONCLUSIONES: La fase inicial de la curva de aprendizaje no afectó significativamente a nuestra serie en términos de extensión de la resección, estado endocrino y resultados visuales.

Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.

OBJECTIVES: To evaluate the clinical, hormonal and genetic characteristics of 46XY disorders of sexual development (DSD) patients from South India. METHODS: 46XY DSD patients with a provisional diagnosis of 17ß-hydroxysteroid dehydrogenase 3 (17BHSD3) deficiency, 5 alpha-reductase type 2 deficiency (5ARD2) or partial androgen insensitivity syndrome (PAIS) based on clinical and hormonal analysis were included in this study. All the patients underwent detailed clinical and hormonal evaluations. Targeted next-generation sequencing for all three genes (AR, HSD17B3, and SRD5A2) in parallel was carried out for all the included patients and their parents. RESULTS: Based upon the clinical and hormonal analysis, among the 37 children with 46XY DSD in the present study, 21 children were diagnosed with 5ARD2, 10 with PAIS, and six with 17BHSD3 deficiency. However, genetic analysis revealed pathogenic mutations in nine patients - six in the AR gene, two in the SRD5A2 gene, and one in the HSD17B3 gene. The concordance rate between provisional hormonal and genetic diagnosis was only 22.2%. Two out of six subjects with AR gene variants were positive for somatic mosaicism. CONCLUSIONS: In the present study, a positive genetic diagnosis was detected in nine patients (24%), including five novel variants. In this study, mutations in the AR gene was the most reported. The authors did not find the testosterone: dihydrotestosterone (T: DHT) ratio to be an accurate hormonal diagnostic tool.

Long-term outcomes in males with disorders of sex development.

PURPOSE: Indications that the prenatal action of testosterone in the brain is an important determinant of gender development and improved reconstructive techniques have caused a shift in male gender assignments in patients with 46XY disorders of sex development. We report long-term outcome data on psychosexual development and sexual function of these individuals in a cross-sectional study. MATERIALS AND METHODS: Physical status of 14 men with a mean age of 25 years with disorders of sex development was assessed by structured interview and physical examination. Psychosexual outcome was evaluated by questionnaires and compared to a control group of 46 healthy, age matched men. RESULTS: A total of 13 men underwent 1 to 6 (mean 2) genital surgeries. Mean age at first surgery was 2.7 years. Mean penile length was 6.6 cm. All men reported erections and were able to experience orgasms. Ejaculatory dysfunction was reported by 7 men. Mean penile length was 7.9 cm in patients who were able to achieve penetrative intercourse and 4.9 cm in those who were not. Meatus was glanular in 5 patients, coronal in 7 and at the distal shaft in 1. Compared to controls, men with disorders of sex development were less satisfied with the appearance of the penis and scrotum but not with total body image. These patients reported decreased sexual desire and activities. CONCLUSIONS: Outcome in this group of men with disorders of sex development was poor regarding penile length, ejaculation, satisfaction with external genitalia and frequency of sexual activity. Other aspects, such as overall body image and psychosexual functioning, showed no difference from controls.

A Cross-Sectional Study of Symptom Prevalence, Frequency, Severity, and Impact of Long-COVID in Scotland: Part I.

BACKGROUND: Commonly reported symptoms of long COVID may have different patterns of prevalence and presentation across different countries. While some limited data have been reported for the United Kingdom, national specificity for Scotland is less clear. We present a cross-sectional survey to examine the symptom prevalence, frequency, and severity of long COVID for people living with the condition in Scotland. METHODS: An online survey was created in the English language and was available between April 21, 2022 and August 5, 2022. Participants were included if they were ≥18 years old, living in Scotland, and had self-diagnosed or confirmed long COVID; and excluded if they were hospitalized during their initial infection. Within this article we quantify symptom prevalence, frequency, severity, and duration. RESULTS: Participants (n = 253) reported the most prevalent long-COVID symptoms to be post-exertional malaise (95%), fatigue/tiredness (85%), and cognitive impairment (68%). Fatigue/tiredness, problems with activities of daily living (ADL), and general pain were most frequently occurring, while sleep difficulties, problems with ADL, and nausea were the most severe. Scottish Index of Multiple Deprivation associated with symptom number, severity, and frequency, whereas vaccine status, age, sex, and smoking status had limited or no association. CONCLUSIONS: These findings outline the challenges faced for those living with long COVID and highlight the need for longitudinal research to ascertain a better understanding of the condition and its longer-term societal impact.

Modeling Distal Middle Cerebral Artery Occlusion in Neonatal Rodents with Magnetic Nanoparticles or Magnetized Red Blood Cells.

It is challenging to establish animal models to mimic perinatal arterial ischemic stroke. Here, we provided two approaches that precisely occlude rodent pups' distal middle cerebral artery of rodent pups at any postnatal age. One uses magnetic nanoparticles to generate platelet-rich thrombus, and the other utilizes magnetized red blood cells (mRBCs) to generate an erythrocyte-rich embolus. Both approaches result in focal cerebral ischemia followed by controllable reperfusion while requiring no arterial surgery.