Diamond preservation in the lithospheric mantle recorded by olivine in kimberlites.

The diamond potential of kimberlites is difficult to assess due to several mantle and magmatic processes affecting diamond content. Traditionally, initial evaluations are based on the compositions of mantle-derived minerals (garnet, chromite, clinopyroxene), which allow an assessment of pressure-temperature conditions and lithologies suitable for diamond formation. Here we explore a complementary approach that considers the conditions of diamonds destruction by interaction with melts/fluids (metasomatism).

Reliability, validity and clinical applicability of the German version of the European Foot and Ankle Society Score.

Background: Purpose of this study was an external evaluation of the recently developed European Foot and Ankle Society (EFAS) Score.

Methods: From July 2021 to January 2022, all consecutive patients with foot and ankle disorders were asked to complete three validated questionnaires prior to the medical examination. Validity was evaluated with correlations between the EFAS Score, Manchester-Oxford Foot Questionnaire (MOxFQ) and Foot and Ankle Outcome Score (FAOS).

A valence tautomeric cobalt-dioxolene complex with an anchoring group for prospective chemical grafting to metal oxides.

Here, we synthesized a valence tautomeric cobalt-dioxolene complex featuring a protected anchoring group. At room temperature, the complex reveals a nearly pure low-spin-Co(iii)-catecholate state in the solid state, but a nearly pure high-spin-Co(ii)-semiquinonate state in toluene solution. Thermal switchability of the complex in solution and in the solid state is investigated.

Forefoot Reconstruction Following Metatarsal Head Resection Arthroplasty With a Plantar Approach-A 20-Year Follow-Up.

Background: Rheumatoid arthritis (RA) can cause significant forefoot disorders. If forefoot deformity and pain are severe, surgical treatment can be considered. The aim of this study was to analyze the long-term outcomes of surgical forefoot correction per Tillmann, which involves resection of the metatarsal heads through a transverse plantar approach for the lesser toes and a dorsomedial approach to the great toe.

Clostridium perfringens: a rare cause of spondylodiscitis case report and review of the literature.

Presented is a case of a 64-year old male with a unique and yet unreported case of a spondylodiscitis caused by Clostridium perfringens. Becoming symptomatic with massive neurological deficits. Computed tomography (CT) revealed typical signs of spondylodiscitis involving the vertebral body L5 with extensive vacuum phenomenon.

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

An earlier preliminary paper is expanded. Women who had given birth to one or more infants with a neural tube defect were recruited into a trial of periconceptional vitamin supplementation. Two hundred mothers attending five centres were fully supplemented (FS), 50 were partially supplemented (PS), and 300 were unsupplemented (US).

Improving nursing management of patients with diabetes using an action research approach.

Nurses in an acute hospital implemented an action research process supporting changes to the assessment and management of acutely ill patients admitted with diabetes and other co-morbidities. An audit of practice identified inaccurate documentation and uncoordinated care that included inflexible protocols for blood glucose level (BGL) assessment and administration of insulin, unrelated to patients' meals and snacks, that in some instances resulted in hypoglycemic episodes. Specialist nurses and ward staff collaborated to improve practice by increasing nurses' knowledge of insulin and by designing and trialing a blood glucose monitoring form that enabled a more individualised approach to patient care.

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.

We describe a fetus from an intracytoplasmic sperm injection (ICSI) pregnancy with severe facial clefts, receding jaw, preauricular skin tags, postaxial hexadactyly, bi-lobed right lung, supernumerary cranial bone, and dilated lateral ventricles of the brain. Using a combination of G-banding, fluorescence in situ hybridization (FISH), whole chromosome paints (WCPs), subtelomere probes, and multicolor banding (MCB), the karyotype was found to include a de novo unbalanced highly complex chromosome rearrangement (hCCR) involving chromosomes 3, 12, and 15 with seven breakpoints, and including monosomy for two separate regions of chromosome 12.

Six1 and Six4 homeoproteins are required for Pax3 and Mrf expression during myogenesis in the mouse embryo.

In mammals, Six5, Six4 and Six1 genes are co-expressed during mouse myogenesis. Six4 and Six5 single knockout (KO) mice have no developmental defects, while Six1 KO mice die at birth and show multiple organ developmental defects. We have generated Six1Six4 double KO mice and show an aggravation of the phenotype previously reported for the single Six1 KO.

Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.

An 18 week foetus with multiple system abnormalities was found to have full trisomy 16. This appears to be only the third reported case surviving into mid-gestation; typically, this common aneuploidy dies post-implantation. Similarities exist in the abnormalities found in the three cases suggesting that there is a 'surviving' trisomy 16 phenotype.

A trisomy 2 fetus with severe neural tube defects and other abnormalities.

Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2.

Microdeletion 22q11.2, Kousseff syndrome and spina bifida.

A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousseff syndrome was made, but detailed cytogenetics subsequently revealed a 22q11.

A 46,XX fetus with external female and internal male genitalia, facial dysmorphic features and mildly dilated lateral ventricles of the brain: a new syndrome?

The clinical features of a 46,XX fetus with dysmorphic facial features, mild dilatation of the lateral ventricles of the brain, and female external and male internal genitalia are described. This combination of abnormalities does not appear to have been reported previously, and may represent a new syndrome.

Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29.

The dominant optic atrophy gene (OPA1) has previously been mapped to chromosome 3q28-q29. We have now constructed a physical and transcriptional map across the OPA1 critical region between markers D3S3557 and D3S3346. It comprises 21 sequence-tagged sites (STSs), 4 single nucleotide polymorphisms, 29 expressed sequence tags, 2 known genes, and 12 newly generated STSs anchored onto 21 yeast artificial chromosome, 22 bacterial artificial chromosome, 48 P1 phage artificial chromosome, and 42 cosmid overlapping clones spanning 2.

Predictors of bone mass in healthy older men in the community.

Objectives: To determine the predictors of bone mass (in lumbar spine and femoral neck) in healthy older men living in the community.

Design: Cross-sectional study. Bone mineral density (BMD) was measured and known predictors of bone mass and bone turnover were assessed.

Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21.

Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening scan for trisomy 21.

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

The Drosophila gene sine oculis (so), a nuclear homeoprotein that is required for eye development, has several homologues in vertebrates (the SIX gene family). Among them, SIX3 is considered to be the functional orthologue of so because it is strongly expressed in the developing eye. However, embryonic SIX3 expression is not limited to the eye field, and SIX3 has been found to be mutated in some patients with holoprosencephaly type 2 (HPE2), suggesting that SIX3 has wide implications in head development.

Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.

Objective: To describe the clinical findings and refine the clinical diagnostic criteria for dominant optic atrophy based on eight British families in which the diagnosis was confirmed by linkage analysis.

Design And Participants: Case series; 92 subjects in 8 pedigrees had both eyes examined.

Intervention: Family members received a domiciliary examination based on best-corrected visual acuity, color vision using Ishihara and Hardy Richter Rand (HRR) plates, confrontation field testing using a red target, and optic disc evaluation using a direct ophthalmoscope.

Altered smooth muscle development and innervation in the lower genitourinary and gastrointestinal tract of the male human fetus with myelomeningocele.

Purpose: We determine whether smooth and skeletal muscle or nerve density is altered in the lower genitourinary or gastrointestinal tract of male human fetuses with myelomeningocele at 20 weeks of gestation.

Materials And Methods: We serially cross sectioned the lower genitourinary and gastrointestinal tracts in 7 male fetuses (mean age 20 weeks of gestation) with myelomeningocele and 4 age matched controls. Immunohistochemical staining was performed using Masson's trichrome stain and antibodies to smooth and skeletal muscle actin.

Trisomy 9 in an embryo with spina bifida.

The products of a 14 week spontaneous abortion were examined and found to contain an embryo at a developmental age of around 35 days. It had a cystic lumbosacral spina bifida and was trisomic for chromosome 9.

Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?

Three female sibs had cerebellar hypoplasia, facial dysmorphism comprising a high forehead, lowset posteriorly rotated ears, a prominent upper lip and receding chin, and variable internal abnormalities. Two of the cases had deficient lobulation of the lungs, two had an atrial septal defect of the heart and developmental abnormalities of the urinary system or internal genitalia, one had holoprosencephaly. All had normal chromosomes.

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.

Dominant optic atrophy, Kjer type, is an autosomal dominant disorder causing progressive loss of visual acuity and colour vision from early childhood. The gene (OPA1) has variable expressivity, a penetrance of 0.98, and the locus has been localised to 3q28-29.

Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique.

Multiple supernumerary ring chromosomes are a rare cytogenetic finding which is poorly understood. With the introduction of FISH techniques, their chromosomal origin can now be defined clearly. The techniques described previously are complicated and time consuming.