How Does Customized Cutting Guide Design Affect Accuracy and Ergonomics in Pelvic Tumor Resection? A Study in Cadavers.

BACKGROUND: Customized cutting guides are technical aids that make primary pelvic bone tumor resection safer and more reliable. Although the effectiveness of such devices appears to be widely accepted, their conception and design remain varied. Two main designs have been reported: the heavier block-type customized cutting guides and the lighter patch-type customized cutting guides. As recent tools, there must be more evidence regarding the impact of design on their accuracy and ergonomics. Thus, an evaluation of their respective performances appears warranted. QUESTIONS/PURPOSES: In a cadaver model, we assessed whether (1) a thinner, patch-type customized cutting guide design results in resections that are closer to the planned resections than the heavier block-type customized cutting guides, and (2) the patch-type customized cutting guide design is more ergonomic than the block-type customized cutting guide with improved usability in surgery (in terms of bulkiness, ease of placement, primary and secondary stability, and stability during cutting). METHODS: We conducted an experimental study involving five fresh whole-body anatomic specimens (three women and two men with a median age of 79 years and median weight of 66 kg) by simulating six virtual tumors in three areas according to the Enneking classification (Zones I: iliac wing, II: periacetabular area, and I and IV: sacroiliac joint area). We compared the impact of the customized cutting guide's design on performance in terms of the resection margin accuracy using CT scan analysis (deviation from the planned margin at the closest point and the maximum deviation from the planned margin) and the intraoperative ergonomic score under conditions simulating those of an oncologic resection of a bone tumor (with a range of 0 to 100, with 100 being best). RESULTS: The patch customized cutting guides performed slightly better than the block customized cutting guides regarding deviation from the planned margin at the closest point, with median values of 1 mm versus 2 mm (difference of medians 1 mm; p = 0.02) and maximum deviation from the planned margin of 3 versus 4 mm (difference of medians 1 mm; p = 0.002). In addition, the patch design was perceived to be slightly more ergonomic than the block design, with a 92% median score versus 84% for the block design (difference of medians 8%; p = 0.03). CONCLUSION: We observed an equivalence in performance regarding accuracy and ergonomics, with slight advantages for patch customized cutting guides, especially in complex zones (Zone I and IV). Owing to a small cohort in a cadaver study, these results need independent replication. CLINICAL RELEVANCE: The patch-type customized cutting guide with thinner contact spots to the bone in specific areas and less soft tissue dissection might offer an advantage over a larger block design for achieving negative oncologic bony margins, but it does not address issues of soft tissue margins.

Vascularization of the menisci: a descriptive study of the peri-meniscal archs.

PURPOSE: The meniscal vascularization remains poorly documented, particularly its origin. The aim of this cadaveric study was to describe the origin of the arterial vascularization of the menisci. METHODS: This is an anatomical study on human specimens. Twenty knees were used. The average age of the subjects was 82.7 years old (56-97). Ten knees were injected with latex-neoprene and ten knees were injected with colored gelatin mixed with India ink. The same protocol for dissection was used in all cases. RESULTS: The meniscal vascularization is provided by the genicular arteries of the knee originating from the popliteal artery. The superior medial, superior lateral, inferior medial, inferior lateral, and middle genicular arteries had constant pathways. A second middle genicular artery was found in 55% of cases. The inferior lateral genicular artery ran alongside the meniscal's periphery. The inferior medial genicular artery followed the proximal tibial metaphysis. In all dissections, a previously undocumented small artery originated from under the middle genicular arteries. This artery remained extracapsular and followed the medial meniscal periphery. This artery has been named the "medial capsulo-meniscal artery". The genicular arteries formed an extensive peri-articular anastomotic vascularization for the menisci and thus referred to the "peri-meniscal arterial archs". The lateral peri-meniscal arch was predominantly supplied by the inferior lateral genicular artery, while the medial peri-meniscal arch was mainly supplied by the medial capsulo-meniscal artery. CONCLUSION: The peri-meniscal arterial archs are a vascular complex formed by the genicular arteries of the knee and an artery not previously described: the "capsulo-meniscal artery". These archs have a constant presence but their formation and distribution is different between the medial and lateral menisci.

Composition of encephalic arteries and origin of the basilar artery are different between vertebrates.

Intracranial arterial anatomy is lacking for most mammalian and non-mammalian model species, especially concerning the origin of the basilar artery (BA). Enhancing the knowledge of this anatomy can improve animal models and help understanding anatomical variations in humans. We have studied encephalic arteries in three different species of birds and eight different species of mammals using formalin-fixed brains injected with arterial red latex. Our results and literature analysis indicate that, for all vertebrates, the internal carotid artery (ICA) supplies the brain and divides into two branches: a cranial and a caudal branch. The difference between vertebrates lies in the caudal branch of the ICA. For non-mammalian, the caudal branch is the origin of the BA, and the vertebral artery (VA) is not involved in brain supply. For mammals, the VA supplies encephalic arteries in two different ways. In the first type of organization, mostly found in ungulates, the carotid rete mirabile supplies the encephalic arteries, the caudal branch is the origin of the BA, and the VA is indirectly involved in carotid rete mirabile blood supply. The second type of encephalic artery organization for mammals is the same as in humans. The caudal branch of the ICA serves as the posterior communicating artery, and the BA originates from both VAs. We believe that knowledge of comparative anatomy of encephalic arteries contributes to a better understanding of animal models applicable to surgical or radiological techniques. It improves the understanding of rare encephalic variations that may be present in humans.

Osteoarthritic chondrocytes undergo a glycolysis-related metabolic switch upon exposure to IL-1b or TNF.

BACKGROUND: Osteoarthritis is an age-related disease that currently faces a lack of symptomatic treatment. Inflammation, which is mainly sustained by pro-inflammatory cytokines such as IL-1b, TNF, and IL-6, plays an important role in osteoarthritis progression. In this context, pro-inflammatory cytokines are widely used to mimic the inflammatory component of osteoarthritis in vitro. However, the therapeutic failures of clinical trials evaluating anti-cytokines drugs highlight the lack of overall understanding of the effects of these cytokines on chondrocytes. METHODS: Here, we generated a comprehensive transcriptomic and proteomic dataset of osteoarthritic chondrocytes treated with these cytokines to describe their pro-inflammatory signature and compare it to the transcriptome of non-osteoarthritic chondrocytes. Then, the dysregulations highlighted at the molecular level were functionally confirmed by real-time cellular metabolic assays. RESULTS: We identified dysregulation of metabolic-related genes in osteoarthritic chondrocytes but not in non-osteoarthritic chondrocytes. A metabolic shift, toward increased glycolysis at the expense of mitochondrial respiration, was specifically confirmed in osteoarthritic chondrocytes treated with IL-1b or TNF. CONCLUSION: These data show a strong and specific association between inflammation and metabolism in osteoarthritic chondrocytes, which was not found in non-osteoarthritic chondrocytes. This indicates that the link between inflammation and metabolic dysregulation may be exacerbated during chondrocyte damage in osteoarthritis. Video Abstract.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. Here, we report one de novo missense variant and three de novo splice variants in RPL13, which encodes ribosomal protein RPL13 (also called eL13), in four unrelated individuals with a rare bone dysplasia causing severe short stature. The three splice variants (c.477+1G>T, c.477+1G>A, and c.477+2 T>C) result in partial intron retention, which leads to an 18-amino acid insertion. In contrast to observations from Diamond-Blackfan anemia, we detected no evidence of significant pre-rRNA processing disturbance in cells derived from two affected individuals. Consistently, we showed that the insertion-containing protein is stably expressed and incorporated into 60S subunits similar to the wild-type protein. Erythroid proliferation in culture and ribosome profile on sucrose gradient are modified, suggesting a change in translation dynamics. We also provide evidence that RPL13 is present at high levels in chondrocytes and osteoblasts in mouse growth plates. Taken together, we show that the identified RPL13 variants cause a human ribosomopathy defined by a rare skeletal dysplasia, and we highlight the role of this ribosomal protein in bone development.

The Common Femoral Artery Is a Fixed Arterial Segment.

BACKGROUND: The risk of stent fracture caused by the movements of the hip joint is one of the limitations of the endovascular treatment of the common femoral artery (CFA). The aim of this study was to describe and analyze the deformations of the iliofemoral axis during flexion and extension of the hip, and to evaluate the impact of stents implanted in the CFA on the deformations observed. MATERIALS AND METHODS: This monocentric descriptive study was carried out on the pelvis obtained from three fresh cadavers (two men aged 72 and 71 years, respectively, and one 94-year-old woman). Arteriography was carried out to appreciate the deformations of the external iliac and common femoral arteries, and to analyze the femoral junctions. A first arteriography was carried out on native arteries, and a second one was carried out after the implantation of a stent in the CFA (Zilver PTX, Cook Medical, Bloomington, IN, USA). In all the cases, anterior and lateral images were obtained, with the hip maintained in extension (0°) or flexion (45°, 90°). RESULTS: In a neutral position (extension), four points of deformation of the iliofemoral axis were identified in the frontal (A, B, C, and D) and sagittal (A', B', C', D') planes. These points were the vertices of the angles formed by the arterial deformation in the frontal and sagittal planes. These four points of deformation observed in the two planes appeared overlapping (A/A', B/B', C/C', and D/D') and were located on the external iliac artery, the origin of the CFA, the femoral bifurcation and the superficial femoral artery, respectively. In the frontal plane, all the angles closed during flexion, and the closure of the angle increased with the degree of flexion. In the sagittal plane, we observed that the angles with the A', C', and D' vertices closed during the flexion of the hip, and that the angle with the B' vertex opened during flexion. The higher was the degree of flexion, the more the angles were accentuated. The implantation of one stent in the CFA modified neither the localization of the points of deformation nor the modifications of angles previously observed on the frontal and the sagittal sections. CONCLUSIONS: As seen from the front and side, the CFA is a fixed segment during the movements of extension and flexion of the hip. The implantation of a stent does not modify this observation.

Collateral effects of targeting the nucleus pulposus via a transpedicular or transannular surgical route: a combined X-ray, MRI, and histological long-term descriptive study in sheep.

PURPOSE: In the context of regenerative medicine strategies, based in particular on the injection of regenerative cells, biological factors, or biomaterials into the nucleus pulposus (NP), two main routes are used: the transpedicular approach (TPA) and the transannular approach (TAA). The purpose of our study was to compare the long-term consequences of the TPA and the TAA on intervertebral disc (IVD) health through a longitudinal follow-up in an ovine model. METHODS: The TPA and the TAA were performed on 12 IVDs from 3 sheep. Six discs were left untreated and used as controls. The route and injection feasibility, as well as the IVD environment integrity, were assessed by MRI (T2-weighted signal intensity), micro-CT scan, and histological analyses (Boos' scoring). The sheep were assessed at 1, 3, and 7 months. RESULTS: Both the TPA and the TAA allowed access to the NP. They both induced NP degeneration, as evidenced by a decrease in the T2wsi and an increase in the Boos' scores. The TPA led to persistent end-plate defects and herniation of NP tissue (Schmorl's node-like) after 7 months as well as the presence of osseous fragments in the NP. CONCLUSIONS: The TPA induced more severe lesions in IVDs and vertebrae compared to the TAA. The lesions induced by the TPA are reason to consider whether or not this route is optimal for studying IVD regenerative medicine approaches.

Dural arteries of the dorsoclival area.

OBJECTIVE: In the literature, there is a lack of complete description of dural arteries of the dorsoclival area with contradictory data. However, dorsoclival area is a site of tumors and vascular malformation or the skull base. That is why, the knowledge of dural arteries is very important. METHODS: Using a colored silicone mix preparation, fifteen sides of eight cranial bases were studied using 4-20× magnification of the surgical microscope. RESULTS: Dorsoclival area is supplying by three arterial complexes, internal carotid artery complex with always the dorsal meningeal artery for the superior two-third of the clivus, medial clival artery for the dorsum sellae, the external carotid artery complex with the hypoglossal and jugular branches of the ascending pharyngeal artery for the inferior one-third of the clivus, and the vertebral artery complex with the anterior meningeal artery for the most inferior part of the clivus and the anterior edge of the foramen magnum. Moreover, there are many anastomoses between those three arterial complexes at this area. CONCLUSION: Dural arterial supply of the dorsoclival area is very opulent. Its knowledge is important for surgical approaches and endovascular procedures.

Skeletal Muscle Regenerative Potential of Human MuStem Cells following Transplantation into Injured Mice Muscle.

After intra-arterial delivery in the dystrophic dog, allogeneic muscle-derived stem cells, termed MuStem cells, contribute to long-term stabilization of the clinical status and preservation of the muscle regenerative process. However, it remains unknown whether the human counterpart could be identified, considering recent demonstrations of divergent features between species for several somatic stem cells. Here, we report that MuStem cells reside in human skeletal muscle and display a long-term ability to proliferate, allowing generation of a clinically relevant amount of cells. Cultured human MuStem (hMuStem) cells do not express hematopoietic, endothelial, or myo-endothelial cell markers and reproducibly correspond to a population of early myogenic-committed progenitors with a perivascular/mesenchymal phenotypic signature, revealing a blood vessel wall origin. Importantly, they exhibit both myogenesis in vitro and skeletal muscle regeneration after intramuscular delivery into immunodeficient host mice. Together, our findings provide new insights supporting the notion that hMuStem cells could represent an interesting therapeutic candidate for dystrophic patients.

Descriptive and dynamic study of the medial patellofemoral ligament (MPFL).

PURPOSE: The goal of this study was to evaluate the anatomy of the medial patellar retinaculum and the medial patellofemoral ligament (MPFL) to provide an anatomical validation of a pediatric reconstruction technique. METHODS: Fifteen knees were dissected to study the MPFL and its relationship with the medial patellar retinaculum and the femoral insertion of the medial collateral ligament (MCL). The distances between the insertions of the MPFL of eight knees, and the patellar insertion of the MPFL and the femoral insertion of the MCL of four knees, were measured during the flexion to evaluate the isometricity of the native and reconstructed MPFL. RESULTS: The medial patellar retinaculum includes four structures: the fascia, fibrous expansions of the vastus muscles, the MPFL and the medial patellomeniscal ligament. The femoral insertion of the MPFL was located just behind the femoral insertion of the MCL in 12 knees. During flexion, the distance between the insertion on the upper patella and the femoral insertion of the MPFL increased while the distance between the insertion on the lower patella and the femoral insertion of the MPFL decreased. The variation in the distances measured during the flexion was greater between the MPFL insertions (nsup = 6.5 mm, ninf = 6.5 mm) than between the patellar insertion of the MPFL and the femoral insertion of the MCL (n'sup = 2.5 mm, n'inf = 5.75 mm). CONCLUSION: The MPFL is not isometric. Even though the results were obtained from knees of elderly specimens, this study demonstrates reconstruction of the MPFL should take into account its anatomy and biomechanical role in the knee.

Extrinsic and intrinsic blood supply to the optic chiasm.

Although there have been many studies of the arterial cerebral blood supply, only seven have described the optic chiasm (OC) blood supply and their results are contradictory. The aim of this study was to analyze the extrinsic and intrinsic OC blood supply on cadaveric specimens using dissections and microcomputer tomography (Micro-CT). Thirteen human specimens were dissected and the internal or common carotid arteries were injected with red latex, China Ink with gelatin or barium sulfate. Three Micro-CTs were obtained to reveal the intrinsic blood supply to the OC. The superior hypophyseal arteries (SupHypA) (13/13) and posterior communicating artery (PCoA) (12/13) supplied the pial network on the inferior side of the OC. The first segment of the anterior cerebral artery (ACA) (10/10), SupHypA (7/10), the anterior communicating artery (ACoA) (9/10), and PComA (1/10) supplied the pial network of its superior side. The intrinsic OC blood supply was divided into three networks (two lateral and one central). Capillaries entering the OC originated principally from the inferior pial network. The lateral network capillaries had the same orientation as the visual lateral pathways, but the central network was not correlated with the nasal fibers crossing into the OC. There was no anastomosis in the pial or intrinsic networks. Only SupHypA, PCoA, ACoA, and ACA were involved in the OC blood supply. Because there was no extrinsic or intrinsic anastomosis, all arteries should be preserved. Tumor compression of the inferior intrinsic arterial network could contribute to visual defects. Clin. Anat. 31:432-440, 2018. © 2017 Wiley Periodicals, Inc.

Morphometric study of the posterior longitudinal ligament at the lumbar spine.

PURPOSE: There are only two descriptions of posterior longitudinal ligament (PLL) at the lumbar spine level but its morphologic characteristics are different to cervical and thoracic levels. METHOD: Spine explantation (from Th12 to L5) followed by resection of the neural arch and the dural sheath in 13 fresh cadavers was performed. The PLL was isolated from other epidural structures and its width was measured and compared to the vertebral body width at each vertebral levels. It was conducted at a microanatomic study concerning the PLL and the posterior outer annulus fibrosus. RESULTS: The PLL width was reduced craniocaudaly significantly, becoming thin from L4. The average width of PLL was 7.8 mm at L1 and 1.9 mm at L5. The width decreased gradually from L1 to L5 or abruptly from L4. The ratio of PLL width compared to the vertebral body width was 21% at L1 and 3% at L5. Microanatomic study confirmed that the PLL is less thick at its annulus fibrosus adhesion at L4-L5 and L5-S1. The relationship between the PLL and other epidural structures are discussed. CONCLUSIONS: The presence and function of the ilio-lumbar ligaments and the articular process orientation of L5-S1 may be explanations for PLL width decrease at L4-L5 and L5-S1. Furthermore, this aspect may be considered as one factor contributing to the occurrence of disc herniations at these levels, which levels are more frequently involved in this pathology.

Vascular Supply of the Auricle: Anatomical Study and Applications to External Ear Reconstruction.

BACKGROUND: Reliable reconstructive flaps require convenient vascular supply. Thus, precise description of the vascular patterns of external ear is not completely elucidated. OBJECTIVE: This anatomical study aims to provide comprehensive data of the arterial network of the auricular region, anastomosis, and patterns of arterial dependence regarding external ear subunits. MATERIALS AND METHODS: After dyed latex injections in the external carotid artery, eleven auricles have been carefully dissected to examine the vascular network of the auricular region. RESULTS: In all cases, the posterior auricular artery (PAA) supplied the cranial side of the auricle, as well as the concha on the lateral side through consistent perforating branches. The superficial temporal artery (STA) network supplied the upper third of the lateral aspect of the auricle. The authors' dissections showed a clear dominance of the PAA supply. However, the two arteries consistently developed anastomoses particularly in the cranial upper third of the auricle. CONCLUSION: Consistent branches and anastomoses between the PAA and the STA network provide reliable pedicles for auricular and facial reconstruction.

Entrapment of the posterior femoral cutaneous nerve and its inferior cluneal branches: anatomical basis of surgery for inferior cluneal neuralgia.

PURPOSE: The apparent failure of pudendal nerve surgery in some patients has led us to suggest the possibility of entrapment of other adjacent nerve structures, leading to the concept of inferior cluneal neuralgia. Via its numerous collateral branches, the posterior femoral cutaneous nerve innervates a very extensive territory including the posterior surface of the thigh, the infragluteal fold, the skin over the ischial tuberosity, but also the lateral anal region, scrotum or labium majus via its perineal branch. METHODS: We described the pathophysiological features of cluneal neuralgia, the surgical technique and our preliminary results. RESULTS: We performed a transmuscular approach leading to the fat of the deep gluteal region. Exploration was continued cranially underneath the piriformis, looking for potential entrapments affecting the posterior femoral cutaneous nerve and the sciatic nerve. Nerve decompression on the lateral surface of the ischial tuberosity was then performed. A constant anatomical finding must be highlighted: the presence of a lateral fibrous expansion from the ischium passing behind the nerves and vessels, especially the posterior femoral cutaneous nerve and its perineal branches. In our patients, release of this expansion allowed decompression of the nerve trapped by this expansion. CONCLUSION: Cluneal neuralgia constitutes a distinct entity of perineal pain, which must be identified and distinguished from pudendal neuralgia. Surgery should be performed via a transgluteal approach. A lateral ischial obstacle must be investigated, in the form of a constant fibrous expansion, which, like a retinaculum, can cause nerve entrapment.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All three mutations were absent from public databases and were not observed on Sanger sequencing of 388 ethnically matched control subjects. The three single-nucleotide mutations code for amino acid changes that are clustered within a putative trypsin-like cysteine/serine peptidase domain of FAM111B. These findings provide evidence of the involvement of FAM111B in congenital poikiloderma and multisystem fibrosis.

Bilateral Obturator Osteotomy: A Novel Osteotomy for Bladder Exstrophy Closure.

BACKGROUND: Abdominal and pelvic closure remains a challenge during bladder exstrophy initial repair. We aimed to report on the feasibility and results of a novel technique of bilateral obturator osteotomy. METHODS: Retrospective study of prospective collected data of children who underwent single-stage delayed bladder exstrophy closure combined with RSTM (Radical Soft Tissue Mobilization) for BEEC (Bladder Exstrophy Epispadias Complex) by the same team at different institutions between December 2017 and May 2021. When pubic approximation was not feasible at the end of the procedure, bilateral obturator osteotomy was performed through the same approach, consisting in bilateral divisions of the ilio-pubic rami, ischio-pubic rami, obturator membrane, and detachment of the internal obturator muscle. Pubic bone fragments were approximated together on the midline. Immobilization in a thermoformed posterior splint was indicated for 3 weeks. The main outcome criterion was the bladder dehiscence rate at 6 months, assessed by physical inspection. Secondary outcome criteria included neurovascular obturator pedicle injury, analyzed during orthopedic physical examination, wound or bone infections, gait acquisition, reported by parents and evaluated during medical examination, and vascular penile impairment, judged by penile and glans coloration. RESULTS: 17 children (11 males, 6 females) were included, at a median age of 2 months [1-33]; and representing 29% (17/58) of the children with bladder exstrophy who underwent the same surgical approach during the time of study. There was no postoperative bladder dehiscence with a median follow-up of 34 months [6-47]. No complication was observed. Pelvic X-rays showed bilateral normal ossification process. Neither gait abnormality, nor clinical indication of obturator nerve deficiency was observed during follow-up. CONCLUSION: When pubic bones approximation is not possible, bilateral obturator osteotomy is a useful adjunct in bladder exstrophy closure, feasible by the pediatric urologist through the same approach, and not requiring external fixator. LEVEL OF EVIDENCE: IV.

Human MuStem cells are competent to fuse with nonhuman primate myofibers in a clinically relevant transplantation context: A proof-of-concept study.

We previously reported that human muscle-derived stem cells (hMuStem cells) contribute to tissue repair after local administration into injured skeletal muscle or infarcted heart in immunodeficient rodent models. However, extrapolation of these findings to a clinical context is problematic owing to the considerable differences often seen between in vivo findings in humans versus rodents. Therefore, we investigated whether the muscle regenerative behavior of hMuStem cells is maintained in a clinically relevant transplantation context. Human MuStem cells were intramuscularly administered by high-density microinjection matrices into nonhuman primates receiving tacrolimus-based immunosuppression thereby reproducing the protocol that has so far produced the best results in clinical trials of cell therapy in myopathies. Four and 9 weeks after administration, histological analysis of cell injection sites revealed large numbers of hMuStem cell-derived nuclei in all cases. Most graft-derived nuclei were distributed in small myofiber groups in which no signs of a specific immune response were observed. Importantly, hMuStem cells contributed to simian tissue repair by fusing mainly with host myofibers, demonstrating their capacity for myofiber regeneration in this model. Together, these findings obtained in a valid preclinical model provide new insights supporting the potential of hMuStem cells in future cell therapies for muscle diseases.

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal-dominant disorder characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations. So far, five patients in four unrelated families have been reported worldwide with MMS. By using whole-genome oligonucleotide array CGH, we have identified an interstitial deletion at 8q13 in all patients. The deletions vary from 582 Kb to 738 Kb in size, but invariably encompass only two genes: SULF1, encoding the heparan sulfate 6-O-endosulfatase 1, and SLCO5A1, encoding the solute carrier organic anion transporter family member 5A1. SULF1 acts as a regulator of numerous growth factors in skeletal embryonic development whereas the function of SLCO5A1 is yet unknown. Breakpoint sequence analyses performed in two families showed nonrecurrent deletions. Real-time quantitative RT-PCR analysis showed the highest levels of SULF1 transcripts in human osteoblasts and cartilage whereas SLCO5A1 was highly expressed in human fetal and adult brain and heart. Our results strongly suggest that haploinsufficiency of SULF1 contributes to this mesomelic chondrodysplasia, highlighting the critical role of endosulfatase in human skeletal development. Codeletion of SULF1 and SLCO5A1--which does not result from a low-copy repeats (LCRs)-mediated recombination event in at least two families--was found in all patients, so we suggest that haploinsufficiency of SULF1 combined with haploinsufficiency of SLCO5A1 (or the altered expression of a neighboring gene through position effect) could be necessary in the pathogenesis of MSS.

The arterial supply of the coracoid process.

OBJECTIVE: The aim of this study was to describe the arterial supply of the coracoid process and to define its possible involvement in complications of Latarjet procedure. METHOD: Five shoulder dissections were performed to highlight the extraosseous blood supply of the coracoid process. Postmortem arteriographies of the upper limb were performed. Diaphanization of a scapula enabled to view its intraosseous blood supply. RESULTS: The vertical part of coracoid process was supplied by supra-scapular artery, and the horizontal part by branches of the axillary artery. DISCUSSION AND CONCLUSION: This anatomical study has shown that the coracoid process had its own blood supply. During the Latarjet procedure, vascular sacrifices are mandatory to allow coracoid process transfer to the scapular neck. Such sacrifices could explain lysis or non-union of the coracoid process after Latarjet procedure. Preservation of axillary artery branches supplying horizontal part of the coracoid process could be a possible solution to prevent non-union and lysis of the bone transfer.

Ciliary ganglion afferents and efferents variations: a possible explanation of postganglionic mydriasis.

PURPOSE: Ciliary ganglion is a pre-visceral vegetative ganglion, relay of ocular bulb vegetative pathways, concerning three types of fibers: parasympathetic, sympathetic and somatosensory. The objective of this study was to describe the different patterns of distribution of those fibers around the ciliary ganglion to explain rare post-traumatic or postoperative ocular symptoms. METHODS: Dissection of 20 orbits, from cavernous sinus to ocular bulb, after intravascular injection of colored latex. RESULTS: Concerning afferents, or roots, three dispositions have to be described: all of them were identified (55 %); parasympathetic root was absent and ciliary ganglion was attached directly to the inferior branch of the oculomotor nerve (25 %); sympathetic root was absent (20 %). Somatosensory root, coming from nasociliary nerve, was constant. Efferents (short ciliary nerves), including these three types of fibers, were variable in number but always constituted two bundles. CONCLUSION: The absence of identifiable parasympathetic root, resulting in a close relationship between ciliary ganglion and the inferior branch of the oculomotor nerve, could be a possible explanation of postganglionic mydriasis following blow-out orbital floor fracture or surgical repair of this type of fracture. The absence of sympathetic root is due to a forward retro-orbital connection between internal carotid plexus and ophthalmic nerve within cavernous sinus, corresponding to gray rami communicans.