Exploring uncharted territory: A case report on de la Chapelle syndrome presenting as male subfertility.

INTRODUCTION: De la Chapelle Syndrome, also known as 46 XX disorders, is a genetic condition that affects sexual development and presents challenges, in physical, hormonal, and genetic aspects. CASE PRESENTATION: This case study explores a 42-year man with de la Chapelle Syndrome who experienced primary subfertility for eight years. The patient demonstrated delayed development of secondary sexual characteristics, shrinking testes and sparse hair distribution. A team comprising fertility specialists, uro surgeons, endocrinologists and genetic counselors collaborated to develop an approach. Based on the patients 46 XX karyotype without sex-determining region Y gene mutation assisted reproduction using donor sperm was chosen as the option. The report delves into the genetics of both sex-determining region Y gene positive and sex-determining region Y gene negative cases while emphasizing the significance of conducting thorough evaluations for issues related to sexual differentiation. DISCUSSION: Management strategies encompass an approach tailored to factors such as age, fertility desires and level of virilization exhibited by the patient. Surgical interventions, hormone treatments and psychological support all play roles in the management. Limited fertility treatment options are available for cases involving XX syndrome with testes such as intrauterine insemination using donor sperm and assisted reproduction with donor sperm. This case underscores the difficulties associated with delayed diagnosis. CONCLUSION: Highlights the importance of adopting an approach that addresses fertility concerns along with endocrine issues and psychological support when managing de la Chapelle Syndrome.

Synthesis of an eco-inspired anticorrosive composite for mild steel applications.

We synthesised a polyaniline/mica (Mica-PANI) nanocomposite using naturally occurring muscovite mica by a top-down approach. The developed coating materials were characterised using a different technique to investigate their chemical and structural properties using Fourier transform infrared spectroscopy (FTIR), X-ray diffraction (XRD), scanning electron microscopy (SEM), X-ray photoelectron spectroscopy (XPS), and thermogravimetric analysis (TGA). Furthermore, the electrochemical properties of the coating materials were investigated by linear sweep voltammetry (LSV). SEM images elucidate the composite's average particle diameter of the prepared nano-mica, approximately 80 nm. The existence of relevant functional groups and bonding in the prepared Mica-PANI composite material was confirmed by means of XPS and FTIR techniques. Moreover, the synthesised composite with 5% w/w shows high anticorrosion protection, i.e. 84 µm per year, compared to competing materials, including commercial paint and individual raw materials (0.35 mm per year). The anti-corrosive effect occurs mainly due to two opposing effects: the formation of an Fe(OH)3 passive layer on the steel surface by oxidation of surface iron atoms by the PANI and the barrier effect of mica NPs through inhibition of corrosive agents. Therefore, the eco-inspired composite could be an ideal cost-effective coating material to prevent the corrosion of mild steel surfaces.

Culture, diversity and inclusion: a survey of British Hip Society members.

AIM: To explore the perceptions and experiences of members of the British Hip Society (BHS) as they relate to culture, diversity and inclusion in the professional sphere. METHOD: BHS members participated in an anonymised online survey in 2021. Quantitative and qualitative data were collected on demographics, professional experiences and perceptions of workplace culture. Members provided suggestions for improving working culture and supporting inclusivity. RESULTS: A 45% response rate (n=217) was achieved. Most respondents were male consultant surgeons, of white ethnicity. Almost a quarter of respondents reported experiencing barriers to career progression within the hip subspecialty. Experience of barriers was more common among women and those of non-white ethnicity. Several members experienced an elitist, exclusive culture in the BHS which is closed to outsiders. Thematic analysis of textual data revealed narratives which portray the perception of the society as a closed-door society, and described a clique culture in orthopaedics, and the pervasiveness of discrimination and banter. CONCLUSION: We found that barriers to inclusion and diversity exist within the professional society. Exploring the narratives around these has informed strategies to overcome them and has shaped future BHS initiatives. To ensure our patients receive the best possible surgical care, it is vital that those with the skills and expertise to deliver it, are supported by the Society and feel a sense of belonging and representation.

Magnetic resonance imaging of Asians with multiple sclerosis was similar to that of the West.

Magnetic resonance imaging (MRI) of the brain is the most important paraclinical diagnostic test in multiple sclerosis (MS). The appearance of MRI in Asians with MS is not well defined. We retrospectively surveyed the first brain and spinal cord MRI in patients diagnosed to have MS, according to Poser's criteria in seven regions throughout Asia to define the MRI changes among Asians with MS. There were 101 patients with first brain, and 86 with first spinal cord MRI, 66 of whom had both. The brain MRI showed a mean of 17 lesions per patient in T2 weighted images, mostly asymptomatic. Almost all the lesions were in the white matter, particularly in the juxtacortical, deep and periventricular white matter. A third of the lesions were greater than 5 mm, 14% enhanced with gadolinium. There were more supratentorial than infratentorial lesions at a ratio of 7.5: 1. Ninety five percent of the spinal cord lesions were in cervical and thoracic regions, 34% enhanced with gadolinium. The lesions extended over a mean of 3.6 +/- 3.3 vertebral bodies in length. Fifty (50%) of the brain and 54 (63%) of the spinal MRI patients had the optic-spinal form of MS. The MRI of the optic-spinal and classical groups of patients were similar in appearance and distribution, except that the optic-spinal MS patients have fewer brain but longer and more severe spinal cord lesions. In conclusion, the brain and spinal cord MRI of Asian patients with MS was similar to that of the West, although, in this study, Asian MS patients had larger spinal cord lesions.

Phylogenetic affiliation of Aeromonas culicicola MTCC 3249(T) based on gyrB gene sequence and PCR-amplicon sequence analysis of cytolytic enterotoxin gene.

We determined the gyrB gene sequences of all 17 hybridizations groups of Aeromonas. Phylogenetic trees showing the evolutionary relatedness of gyrB and 16S rRNA genes in the type strains of Aeromonas were compared. Using this approach, we determined the phylogenetic position of Aeromonas culicicola MTCC 3249(T), isolated from midgut of Culex quinquefasciatus. In the gyrB based-analysis A. culicicola MTCC 3249(T) grouped with A. veronii whereas, it grouped with A. jandaei in the 16S rRNA based tree. The number of nucleotide differences in 16S rRNA sequences was less than found with the gyrB sequence data. Most of the observed nucleotide differences in the gyrB gene were synonymous. The Cophenetic Correlation Coefficient (CCC) for gyrB sequences was 0.87 indicating this gene to be a better molecular chronometer compared to 16S rRNA for delineation of Aeromonas species. This strain was found to be positive for the cytolytic enterotoxin gene. PCR-Amplicon Sequence Analysis (PCR-ASA) of this gene showed that the isolate is affiliated to type I and is potentially pathogenic. These PCR-ASA results agreed in part with the gyrB sequence results.