New insights into the variability of upper airway morphology in modern humans.

The biological adaptation of the human lineage to its environment is a recurring question in paleoanthropology. Particularly, how eco-geographic factors (e.g., environmental temperature and humidity) have shaped upper airway morphology in hominins have been subject to continuing debate. Nasal shape is the result of many intertwined factors that include, but are not limited to, genetic drift, sexual selection, or adaptation to climate. A quantification of nasal airway (NA) morphological variation in modern human populations is crucial to better understand these multiple factors. In the present research, we study 195 in vivo CT scans of adult individuals collected in five different geographic areas (Chile, France, Cambodia, Russia, and South Africa). After segmentation of the nasal airway, we reconstruct 3D meshes that are analyzed with a landmark-free geometric morphometrics method based on surface deformation. Our results highlight subtle but statistically significant morphological differences between our five samples. The two morphologically closest groups are France and Russia, whose NAs are longer and narrower, with an important protrusion of the supero-anterior part. The Cambodian sample is the most morphologically distinct and clustered sample, with a mean NA that is wider and shorter. On the contrary, the Chilean sample form the most scattered cluster with the greatest intra-population variation. The South African sample is morphologically close to the Cambodian sample, but also partially overlaps the French and Russian variation. Interestingly, we record no correlation between NA volume and geographic groups, which raises the question of climate-related metabolic demands for oxygen consumption. The other factors of variation (sex and age) have no influence on the NA shape in our samples. However, NA volume varies significantly according both to sex and age: it is higher in males than in females and tends to increase with age. In contrast, we observe no effect of temperature or humidity on NA volume. Finally, we highlight the important influence of asymmetries related to nasal septum deviations in NA shape variation.

Anatomical features of the iliocapsularis muscle: a dissection study.

PURPOSE: Iliocapsularis (IC) overlies the anteromedial hip capsule and is an important landmark in anterior approaches to hip arthroplasty. Previously believed to be part of iliacus, few publications describe the prevalence, attachments, fibre direction, blood supply, innervation, and size of IC. This study was aimed to determine these anatomical features using embalmed bodies and whether they vary between sides, sex, and age. METHODS: Thirty-eight formalin-fixed adult bodies were dissected and the prevalence, presence of a connective tissue raphe, attachments, fibre direction, blood supply, and innervation, were documented. Length and width were measured, and significant differences were investigated with t tests. RESULTS: Iliocapsularis was present in all bodies examined, originating from the inferior border of the anterior inferior iliac spine, and inserting 20 mm distal to the lesser trochanter in 54 muscles (71%). Iliocapsularis was supplied by a thin branch from the femoral nerve and by branches of the lateral circumflex femoral and deep femoral arteries and veins. Muscle fibre direction was from superolateral to inferomedial. Mean length was 116.8 ± 11.2 mm and width was 12.8 ± 3.1 mm, with no significant differences between sides, sex, and age. CONCLUSION: This was the first study to document the venous drainage and compare the dimensions with sides, sex, and age, using adult bodies. However, the true function of IC is still unknown. Iliocapsularis is a constant muscle, distinct from iliacus, which is relevant to orthopaedic surgeons and physical rehabilitation specialists, particularly for postoperative patient care.

Observation of Patients' 3D Printed Anatomical Features and 3D Visualisation Technologies Improve Spatial Awareness for Surgical Planning and in-Theatre Performance.

Improved spatial awareness is vital in anatomy education as well as in many areas of medical practice. Many healthcare professionals struggle with the extrapolation of 2D data to its locus within the 3D volume of the anatomy. In this chapter, we outline the use of touch as an important sensory modality in the observation of 3D forms, including anatomical parts, with the specific neuroscientific underpinnings in this regard being described. We explore how improved spatial awareness is directly linked to improved spatial skill. The reader is offered two practical exercises that lead to improved spatial awareness for application in exploring external 3D anatomy volume as well as internal 3D anatomy volume. These exercises are derived from the Haptico-visual observation and drawing (HVOD) method. The resulting cognitive improvement in spatial awareness that these exercises engender can be of benefit to students in their study of anatomy and for application by healthcare professionals in many aspects of their medical practice. The use of autostereoscopic visualisation technology (AS3D) to view the anatomy from DICOM data, in combination with the haptic exploration of a 3D print (3Dp) of the same stereoscopic on-screen image, is recommended as a practice for improved understanding of any anatomical part or feature. We describe a surgical innovation that relies on the haptic perception of patients' 3D printed (3Dp) anatomical features from patient DICOM data, for improved surgical planning and in-theatre surgical performance. Throughout the chapter, underlying neuroscientific correlates to haptic and visual observation, memory, working memory, and cognitive load are provided.

Bony anatomy of the third metacarpal and relationship with the capitate: a computed tomography study.

PURPOSE: The purpose of this study was to accurately establish the anatomical variability of the third metacarpal, its medullary canal, and the relationship with the capitate in the context of high rates of component loosening still seen in total wrist arthroplasty. METHODS: CT scans of a 100 hands (age: 41 ± 14 years (range: 16-71 years); male/female ratio: 53/47) were studied to establish the detailed anatomy of the third metacarpal and the capitate. RESULTS: Although the shape of the third metacarpal and the angles formed with the capitate were highly variable, the third metacarpal length was longer in males (p < 0.001), the proximal cortical bone was thicker (p < 0.001) and the sagittal metacarpal-capitate axis offset was greater (p = 0.01). A relationship was found between the total length of the metacarpal and the distance to the isthmus from the base (r = 0.63; p < 0.0001) which was unaffected by gender. No age-related relationships were significant. CONCLUSION: The anatomy of the third metacarpal and capitate varies considerably more than has been alluded to in current wrist arthroplasty literature. Differences between males and females can likely be attributed to hand size. The distance of the isthmus from the base can be predicted from the total length of the metacarpal with a standard error of 1.9 mm.

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Spondyloocular syndrome (SOS) is a rare autosomal recessive, skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs, including retina, heart muscle, inner ear, cartilage, and bone. The XYLT2 gene encodes xylosyltransferase 2, which catalyzes the transfer of xylose (monosaccharide) to the core protein of proteoglycans (PGs) leading to initiating the process of PG assembly. SOS was originally characterized in 2 families A and B of Iraqi and Turkish origin, respectively. Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene. In addition, this report has extended the phenotypic description of SOS by adding follow-up data from 5 affected individuals in one of the two families, presented here.

[Optic Disk Drusen: Historical and Up-To-Date Aspects]. / Drusenpapille - ein Überblick über medizinhistorische und aktuelle Aspekte.

Optic disc drusen are an important differential diagnosis in the diagnostic evaluation of a prominent optic nerve head. Drusen of the optic disc occur in 0.34 to 2.4 % of human individuals and manifest themselves bilaterally in three of four cases. Drusen are found six times more often within histological sections than on funduscopic examination. It is known that optic disc drusen can occur in familial clusters without any other pathological ophthalmic findings. They can also be associated with retinitis pigmentosa, or with the Joubert or Alagille syndromes. Non-invasive diagnostic tools include fundus-autofluorescence (AF), optical coherence tomography (OCT) and ultrasound. Drusen of the optic nerve head are asymptomatic in most cases, though transient ischemia can lead to transient visual impairment. In particular, superficial drusen can lead to profound visual field defects in adulthood. Regular ophthalmological follow-up examinations with tonometry and perimetry are recommended for the early detection of visual field defects. Radial optic neurotomy (RON) seems to be a therapeutic option in patients with acute deterioration of the visual field.

[Genotype-phenotype correlation in patients with PRPH2-mutations]. / Genotyp-Phänotyp-Korrelation bei Patienten mit PRPH2-Mutationen.

BACKGROUND: The peripherin-2 (PRPH2) gene encodes a photoreceptor-specific transmembrane-protein called peripherin-2 which is critical for the formation and maintenance of rod and cone outer segments. Over 90 different disease-causing mutations in PRPH2 have been identified which cause a variety of forms of macular degeneration and also retinopathia pigmentosa. PATIENTS/MATERIAL AND METHODS: This study is a retrospective observational study of 3 patients ascertained over a 5 month period in the ophthalmogenetic consultation of the university ophthalmic clinic. So far, the patients were followed for 8 months at least. Data examined included clinical history, pedigree analysis, ophthalmological examination, fundus photography, autofluorescence imaging, optical coherence tomography, Arden colour test, Goldmann perimetry and detailed electrophysiological assessment. Blood samples were taken for DNA extraction and mutation analysis of PRPH2 and ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, RDH12, RP1L1, RPGR, TIMP3 was performed. RESULTS: All patients had presented with clinically evident maculopathy and visual acuities in the range of 1/50 Metervisus to 0.8 p [dec.]. All had specific electroretinogrammes. All PRPH2 mutations were autosomal dominant. One family was heterozygous for a previously reported missense mutation in the PRPH2 gene c.514C>T, p.R172W. The other patient was heterozygous for a so far non-described PRPH2 deletion and frameshift mutation c.74_77delGGTT, p.W25SfsX12 leading most likely to a truncated, dysfunctional protein. All patients showed a significant, inter-individual phenotypical variability. CONCLUSION: The data add to the documented phenotypical variability of PRPH2 mutations and describe the c.74_77delGGTT, p.W25SfsX12 mutation within PRPH2 for the first time. FAF, OCT and electrophysiological exams are helpful tools for diagnosis and evaluation of macular disease due to PRPH2 mutations.

[Congenital cranial dysinnervation disorders (CCDD)]. / Kongenitale kraniale Dysinnervationssyndrome (CCDD).

Knowledge about hereditary eye diseases has been substantially increased by means of genetic testing during the last decade. This has resulted in a new classification of a number of disease patterns, which are characterised by non-progressive restrictive disorders of the oculomotor system, formerly classified as "congenital fibrosis syndromes". Based on the results of genetic testing, these ocular motility disorders are now referred to as "congenital cranial dysinnervation disorders" (CCDDs). They are caused by an impaired innervation of extraocular muscles because of a dysgenesis of the nuclei of the affected cranial nerves in the brainstem and pons and not by primary fibrosis of the extraocular muscles. In this review, congenital fibrosis of the extraocular muscles (CFEOM), Duane syndrome, horizontal gaze palsy with progressive scoliosis, congenital ptosis and Moebius syndrome are presented and basic principles of intracellular transport mechanisms and kinesins are discussed.

Randomized comparison between the cemented Scientific Hip Prosthesis and Omnifit: 2-year DEXA and minimum 10-year clinical follow-up.

Radiostereometry (RSA) of the cemented Scientific Hip Prosthesis (SHP) reported excessive migration and predicted high failure rates. In a prospective randomized clinical trial we compared minimum 10 years results of the SHP (n=38) with the Omnifit-stem (n=37). Two-year bone remodelling, compared with dual energy x-ray absorptiometry and assessed in regions of interest A-D based on the 7 Gruen zones, showed better periprosthetic bone preservation around the SHP in all but one regions (P<.05). At 10 years Harris Hip Score was better for the SHP (P=.0001) but Oxford Hip Score was the same (P=.79). There were no revisions in either group, but radiographic loosening was definite in 1 SHP and 1 Omnifit. Based on earlier RSA studies, the rough surface finish of the SHP was expected to cause cement abrasion, osteolysis and inferior survival. However our clinical and remodelling results could not confirm these expectations, suggesting that the link of early migration and mid-term clinical results is not sufficiently clear for the SHP.

In PSC with colitis treated with UDCA, most colonic carcinomas develop in the first years after the start of treatment.

BACKGROUND: Patients with PSC and IBD have a high incidence of colonic carcinomas (CRC), and the annual incidence of CRC increases with duration of disease. UDCA treatment has been suggested to reduce colonic dysplasias and carcinomas. AIMS: The annual incidence of colorectal carcinomas after long-term UDCA treatment was studied. METHODS: Patients included in a prospective study on the outcome after ursodeoxycholic acid (UDCA) treatment were evaluated. RESULTS: A total of 120 of 171 PSC patients included had IBD (108 UC and 12 CD). All patients were treated with UDCA for a median time of 6.7 years. Seven patients with PSC and IBD developed a CRC yielding a prevalence of 5.8%. In years 0-3 (n = 120) after the start of UDCA, the annual incidence rate of CRC was 0.62/100 patient years; in years 3-6 (n = 93) it increased to 1.28 and decreased thereafter in years 6-9 (n = 67) to 1.17, then in years 9-12 (n = 42) to 0 and after >12 years (n = 24) it remained 0. In PSC with IBD, Kaplan-Meier estimate of CRC formation increased with time in the first years of treatment and reached a plateau after 9 years; after treatment for ≥ 9 years, no further CRC were observed. CONCLUSION: After the start of UDCA, the annual incidence of CRC increased up to 6 years and subsequently decreased. In PSC with IBD treated with UDCA, most colonic carcinomas develop in the first years after the start of treatment.

International survey of primary and revision total knee replacement.

PURPOSE: Total knee arthroplasty (TKA) is currently the international standard of care for treating degenerative and rheumatologic knee joint disease, as well as certain knee joint fractures. We sought to answer the following three research questions: (1) What is the international variance in primary and revision TKA rates around the world? (2) How do patient demographics (e.g., age, gender) vary internationally? (3) How have the rates of TKA utilization changed over time? METHODS: The survey included 18 countries with a total population of 755 million, and an estimated 1,324,000 annual primary and revision total knee procedures. Ten national inpatient databases were queried for this study from Canada, the United States, Finland, France, Germany, Italy, the Netherlands, Portugal, Spain, and Switzerland. Inpatient data were also compared with published registry data for eight countries with operating arthroplasty registers (Denmark, England & Wales, Norway, Romania, Scotland, Sweden, Australia, and New Zealand). RESULTS: The average and median rate of primary and revision (combined) total knee replacement was 175 and 149 procedures/100,000 population, respectively, and ranged between 8.8 and 234 procedures/100,000 population. We observed that the procedure rate significantly increased over time for the countries in which historical data were available. The compound annual growth in the incidence of TKA ranged by country from 5.3% (France) to 17% (Portugal). We observed a nearly 27-fold range of TKA utilization rates between the 18 different countries included in the survey. CONCLUSION: It is apparent from the results of this study that the demand for TKA has risen substantially over the past decade in countries around the world.

Development of a Virtual Journal Club in Anatomy: a Responsive Pandemic Pedagogy.

The COVID-19 pandemic forced changes to online teaching worldwide. The Clinical Anatomy journal club (JC) is key in the Bachelor of Science Honours (BScHons) programme and aims to improve scientific appraisal and communication abilities in anatomical research. An online JC through synchronous contact between members was deemed fitting as it could bridge the newly enforced geographical limitations due to the national lockdown in South Africa. Although common in clinical specialties, there are no published reports of anatomy themed online JCs. This project aimed to develop, implement, and appraise a synchronous virtual JC for Clinical Anatomy during the COVID-19 South African lockdown. A qualitative exploratory study design within an interpretive/constructivist paradigm was followed and aimed to explore students' perceptions of a virtual anatomy JC during the lockdown. The study was conducted at a South African institution, within the BScHons programme, and all enrolled students were invited to participate. Upon receipt of informed consent, an anonymous questionnaire was administered via Moodle for the BScHons students. The responses were analysed by thematic analysis, codes were developed, and themes were generated. Two main themes were generated from the results: the first related to the virtual format of the JC and the second focused on the content and topics covered during the JC sessions. The Clinical Anatomy staff and students adapted rapidly to the virtual JC and formed a community of practice. The benefits of teaching and learning within JC were maintained during the virtual format. It is envisioned that the JC will continue in a hybrid format (face-to-face and virtual) in future academic years. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40670-021-01325-8.

[Retinal detachment in children and adolescents. Specific clinical features]. / Ablatio retinae bei Kindern und Jugendlichen. Spezifische Befundmerkmale.

BACKGROUND: Due to the long life expectancy, retinal detachment is a special threat to visual acuity in children and adolescents. This study presents the clinical features of retinal detachment in childhood and adolescence up to the age of 20 years. PATIENTS AND METHODS: A cohort was selected comprising 259 patients who suffered from unilateral or bilateral retinal detachment, were not older than 20 years of age at the first diagnosis of the first or only affected eye and had undergone surgery at least once at the Department of Ophthalmology of the University Medical Center of Munich during a period of 18 years (1980-1998). This patient collective was retrospectively analyzed with respect to the clinical features of the first retinal detachment. The group consisting of only one affected eye or the first affected eye (259 eyes) was included. The fellow eyes affected later were excluded (19 eyes). RESULTS: The time period between the first visual symptoms and the diagnosis of retinal detachment was on average 9.6 weeks and the most commonly manifested symptom was loss of vision (36.3% of patients). In 40.2% of the patients the detachment was discovered fortuitously. The most frequent presentation (34.0%) was a 2-quadrant retinal detachment and was (sub)total in 27.0% of eyes. Macular detachment was found in 154 eyes (59.5%). The commonest type of retinal break was a tear near the ora serrata (36.1% of all breaks). Giant tears (12.8% of all breaks) occurred preferentially in the area of the ora serrata, round atrophic holes were identified especially in the area of the equator, often in the form of a chain of holes. Breaks most frequently occurred in the inferior temporal quadrant. In 22.4% of retinal detachments no break was found even intraoperatively. A primary proliferative vitreoretinopathy (PVR) of at least stage C was involved in 25.5% of detachments. CONCLUSION: In childhood and adolescence a characteristic delay of diagnosis enables a large sized expansion of the retinal detachment with frequent macular involvement and a high proportion with (sub)total detachment and severe primary PVR. Tears in the ora serrata area, giant tears, multiple round atrophic holes in the area of the equator and a high rate of undetectable breaks are the intrinsic characteristics of juvenile retinal detachment.

Late remodeling around a proximally HA-coated tapered titanium femoral component.

UNLABELLED: Most bone remodeling is thought to occur within the first few years after THA. Loss of bone density later may be associated with stress shielding or normal bone loss of aging. We evaluated remodeling changes over time with a proximally hydroxyapatite-coated tapered titanium stem. We evaluated plain radiographs of 143 hips for cancellous condensation, cortical hypertrophy, cortical porosis, cortical index, and canal fill at early postoperative, 5, 10, and 15 years. Average age was 51 years at THA; 69 patients (77 hips) (53%) were women; and 102 hips (71%) had primary osteoarthrosis. Based on radiographic findings at 15 years, hips were divided into three subgroups: 43 (30%) demonstrated minimal remodeling changes; 53 (37%) demonstrated cortical hypertrophy evident before 5 years; and 47 (33%) demonstrated additional late remodeling and cortical porosis, most often after 10 years. Hips with poorer bone (Dorr Types B or C) and, when including only hips with osteoarthrosis, more female hips had cortical porosis at 15 years. Late radiographic changes in patients with porosis appear more similar to that associated with an extensively rather than proximally coated stem. Whether continued bone adaptation and bone loss of aging will eventually threaten implant stability is unknown, but at 15 years, all 143 implants remained well fixed and clinically asymptomatic. LEVEL OF EVIDENCE: Level III, retrospective study. See the Guidelines for Authors for a complete description of levels of evidence.

Effects of three husbandry systems on health, welfare and productivity of organic pigs.

Organic pig husbandry systems in Europe are diverse - ranging from indoor systems with concrete outside run (IN) to outdoor systems all year round (OUT) and combinations of both on one farm (POUT). As this diversity has rarely been taken into account in research projects on organic pig production, the aim of this study was to assess and compare pig health, welfare and productivity in these three systems. Animal health and welfare were assessed using direct observation and records of 22 animal-based measures, comprising 17 health-, 3 productivity- and 2 behavioural measures. These were collected in pregnant sows, weaners and fattening pigs during direct observations and from records within a cross-sectional study on 74 farms (IN: n = 34, POUT: n = 28, OUT: n = 12) in eight countries. Overall, prevalence of several animal health and welfare issues was low (e.g. median 0% for pigs needing hospitalisation, shoulder lesions, ectoparasites; <5% for runts, tail lesions, conjunctivitis). Exceptions in particular systems were respiratory problems in weaners and fatteners (IN: 60.0%, 66.7%; POUT: 66.7%, 60.0%), weaning diarrhoea (IN: 25.0%), and short tails in fatteners (IN: 6.5%, POUT: 2.3%). Total suckling piglet losses (recorded over a period of 12 months per farm) were high in all three systems (IN: 21.3%; POUT: 21.6; OUT: 19.2%). OUT had lower prevalences of respiratory problems, diarrhoea and lameness of sows. POUT farms in most cases kept sows outdoors and weaners and fatteners similar to IN farms, which was reflected in the results regarding several health and welfare parameters. It can be concluded, that European organic pigs kept in all three types of husbandry system showed a low prevalence of health and welfare problems as assessed by our methodology, but respiratory health and diarrhoea should be improved in weaners and fatteners kept indoors and total piglet mortality in all systems. The results provide benchmarks for organic pig producers and organisations which can be used in strategies to promote health and welfare improvement. Furthermore, in future research, the identified health and welfare issues (e.g. suckling piglet mortality, weaning diarrhoea) should be addressed, specifically considering effects of husbandry systems.

Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy.

The mitochondrial 12S rRNA is considered a hotspot for mutations associated with nonsyndromic (NSHL) and aminoglycoside-induced hearing loss (AIHL). Although aminoglycoside ototoxicity is the most common cause of bilateral vestibular dysfunction, the conceivable role of 12S rRNA mutations has never been systematically investigated. We sequenced the 12S rRNA of 66 patients with bilateral vestibulopathy (BV) with (n=15) or without (n=51) prior exposure to aminoglycosides, as well as 155 healthy controls with intact vestibular function (sport pilots), and compared these to 2704 published sequences (Human Mitochondrial Genome Database). No mutations with a confirmed pathogenicity were found (A1555G, C1494T), but four mutations with a hitherto tentative status were detected (T669C, C960del, C960ins, T961G). Due to their predominant occurrence in patients without aminoglycoside exposure, their detection in controls and a weak evolutionary conservation, their pathogenic role in vestibulocochlear dysfunction remains provisional.