The range and variation in serum estradiol concentration in perimenopausal and postmenopausal women treated with transdermal estradiol in a real-world setting: a cross-sectional study.

Objectives: The aims of the study are to explore the range and variation in serum estradiol concentration, and to estimate the prevalence of "poor absorption" (women using licensed estradiol doses with subtherapeutic levels), in perimenopausal and postmenopausal women using transdermal estradiol in the real world.

Methods: This is a cross-sectional analysis in a specialist menopause clinic in the UK.

Results: Serum samples were obtained from 1,508 perimenopausal and postmenopausal women.

Authorization of anastrazole to prevent breast cancer in postmenopausal women: a bad idea.

Anastrazole has recently been approved for the prevention of breast cancer in high-risk women in the UK. When given to high-risk women anastrazole halves the risk of developing breast cancer but doesn't reduce the risk of breast cancer death and is associated with significant harms. Women need to be counselled about both the benefits and risks associated with anastrazole use to enable an informed treatment choice.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

The bromodomain adjacent to zinc finger 2B (BAZ2B) gene encodes a chromatin remodeling protein that has been shown to perform a variety of regulatory functions. It has been proposed that loss of BAZ2B function is associated with neurodevelopmental phenotypes, and some recurrent structural birth defects and dysmorphic features have been documented among individuals carrying heterozygous loss-of-function BAZ2B variants. However, additional evidence is needed to confirm that these phenotypes are attributable to BAZ2B deficiency.

The Need for Culturally Appropriate Food Allergy Management Strategies: The Indian Milk Ladder.

Background: Cow's milk allergy (CMA) is one of the most common and complex food allergies affecting children worldwide and, with a few exceptions, presents in the first few months of life. Baked-milk-containing diets are well tolerated in the majority of milk-allergic children and allow dietary restrictions to be relaxed. In addition, the early introduction of tolerated forms of allergenic foods to an infant's diet in small amounts may enhance the outgrowth of their milk allergy through oral tolerance induction.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases.

Methods: We ascertained five individuals with monoallelic pathogenic variants in MORC2, previously associated with three dominantly inherited phenotypes: an axonal form of Charcot-Marie-Tooth disease type 2Z; a syndrome of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy; and a rare form of spinal muscular atrophy.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

The transmembrane protein TMEM147 has a dual function: first at the nuclear envelope, where it anchors lamin B receptor (LBR) to the inner membrane, and second at the endoplasmic reticulum (ER), where it facilitates the translation of nascent polypeptides within the ribosome-bound TMCO1 translocon complex. Through international data sharing, we identified 23 individuals from 15 unrelated families with bi-allelic TMEM147 loss-of-function variants, including splice-site, nonsense, frameshift, and missense variants. These affected children displayed congruent clinical features including coarse facies, developmental delay, intellectual disability, and behavioral problems.

Reconstructive Surgery versus Primary Closure following Vulvar Cancer Excision: A Wide Single-Center Experience.

(1) Background: plastic reconstruction in vulvar surgery can lead to a better treatment outcome than primary closure. This study aims to compare the preoperative parameters (co-morbidities and tumor size) and postoperative results (tumor free margins and wound healing) between the primary closure and reconstructive surgery after vulvar cancer surgery; (2) Methods: this is a retrospective analysis of prospectively collected data from 2009 to 2021 at a tertiary cancer institution; (3) Results: 177 patients were included in the final analysis (51 patients had primary closure PC and 126 had reconstructive surgery RS). About half (49%) of the PC patients had no co-morbidities ( = 0.

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.

Background And Objectives: CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linked gene coding for a kinase cause CDD. Molecular genetics has proved that almost all pathogenic missense substitutions localize in the N-terminal catalytic domain, therefore underlining the importance for brain development and functioning of the kinase activity.

International Consensus Recommendations for Eosinophilic Gastrointestinal Disease Nomenclature.

Background & Aims: Substantial heterogeneity in terminology used for eosinophilic gastrointestinal diseases (EGIDs), particularly the catchall term "eosinophilic gastroenteritis," limits clinical and research advances. We aimed to achieve an international consensus for standardized EGID nomenclature.

Methods: This consensus process utilized Delphi methodology.

Aggressive paediatric camptodactyly: The evolution of a proposed treatment algorithm.

Introduction: It is a long-established teaching to avoid operating on camptodactyly unless there is a failure of non-operative treatment, such as serial splinting and hand therapy, and there is an established proximal interphalangeal joint (PIPJ) contracture of 60°; a recent systematic review reflects this continuing approach, with some papers advocating intervention with a lesser degree of contracture.

Aim: To evaluate whether early flexor digitorum superficialis (FDS) release, followed by gentle passive manipulation (GPM), will correct severe 'congenital' camptodactyly, if undertaken at an earlier age than usual, thus avoiding the more aggressive surgical approach required in the established adolescent cases.

Method: The surgical technique and treatment algorithm are described.

Isolated bulbar palsy and dysphagia in children with respiratory symptoms.

Oropharyngeal dysphagia can cause chronic aspiration leading to significant respiratory symptoms. When dysphagia is diagnosed, an underlying cause is sought. We present a case series of 15 children diagnosed aged 6 months to 5 years (mean 2y 5mo; 11 males, four females) over a 6-year period, who were found to have an isolated bulbar palsy on genioglossus electromyography, with no accompanying neurological or neurodevelopmental disorder.

A new diversity index.

We introduce here a new index of diversity based on consideration of reasonable propositions that such an index should have in order to represent diversity. The behaviour of the index is compared with that of the Gini-Simpson diversity index, and is found to predict more realistic values of diversity for small communities, in particular when each species is equally represented and for small communities. The index correctly provides a measure of true diversity that is equal to the species richness across all values of species and organism numbers when all species are equally represented, as well as Hill's more stringent 'doubling' criterion when they are not.

Machine learning with neuroimaging data to identify autism spectrum disorder: a systematic review and meta-analysis.

Purpose: Autism Spectrum Disorder (ASD) is diagnosed through observation or interview assessments, which is time-consuming, subjective, and with questionable validity and reliability. Thus, we aimed to evaluate the role of machine learning (ML) with neuroimaging data to provide a reliable classification of ASD.

Methods: A systematic search of PubMed, Scopus, and Embase was conducted to identify relevant publications.

Updates in Management of Craniomaxillofacial Gunshot Wounds and Reconstruction of the Mandible.

This article includes updates in the management of mandibular trauma and reconstruction as they relate to maxillomandibular fixation screws, custom hardware, virtual surgical planning, and protocols for use of computer-aided surgery and navigation when managing composite defects from gunshot injuries to the face.

Genetic neuropathies presenting with CIDP-like features in childhood.

Inherited neuropathies are amongst the most common neuromuscular disorders. The distinction from chronic inflammatory demyelinating polyneuropathy (CIDP) may be challenging, considering its rarity in childhood, that genetic neuropathies may show secondary inflammatory features, and that subacute CIDP presentations may closely mimic the disease course of inherited disorders. The overlap between genetic neuropathies and CIDP is increasingly recognized in adults but rarely reported in children.

Nerve-Sparing Systematic Lymph Node Dissection in Gynaecological Oncology: An Innovative Neuro-Anatomical and Surgical Protocol for Enhanced Functional Outcomes.

Whilst systematic lymph node dissection has been less prevalent in gynaecological cancer cases in the last few years, there is still a good number of cases that mandate a systematic lymph node dissection for diagnostic and therapeutic purposes. In all of these cases, it is crucial to perform the procedure as a nerve-sparing technique with utmost exactitude, which can be achieved optimally only by isolating and sparing all components of the aortic plexus and superior hypogastric plexus. To meet this purpose, it is essential to provide a comprehensive characterization of the specific anatomy of the human female aortic plexus and its variations.

A Concise Paradigm on Radical Hysterectomy: The Comprehensive Anatomy of Parametrium, Paracolpium and the Pelvic Autonomic Nerve System and Its Surgical Implication.

The current understanding of radical hysterectomy is more centered on the uterus and little is discussed regarding the resection of the vaginal cuff and the paracolpium as an essential part of this procedure. The anatomic dissections of two fresh and 17 formalin-fixed female pelvis cadavers were utilized to understand and decipher the anatomy of the pelvic autonomic nerve system (PANS) and its connections to the surrounding anatomical structures, especially the paracolpium. The study mandates the recognition of the three-dimensional (3D) anatomic template of the parametrium and paracolpium and provides herewith an enhanced scope during a nerve-sparing radical hysterectomy procedure by precise description of the paracolpium and its close anatomical relationships to the components of the PANS.

Correction to: Paediatric proximal ACL tears managed with direct ACL repair is safe, effective and has excellent short-term outcomes.

Authors would like to update the full author names.