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1.
Am J Hum Genet ; 105(5): 1040-1047, 2019 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-31630789

RESUMO

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.

2.
Surg Radiol Anat ; 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31486864

RESUMO

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.

3.
Ann Anat ; 226: 23-28, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31330308

RESUMO

The inferolateral trunk (ILT) is one of the two more common branches of the cavernous internal carotid artery (ICA). Its knowledge is important for skull base surgery and endovascular interventional procedures. The ILT is described with superior, anterior and posterior branch, which is the complete form. These branches vascularize the oculomotor, trochlear, trigeminal and abducens nerves into the cavernous sinus and superior orbital fissure (SOF) courses, and through the foramens rotundum and ovale. We performed 21 injected embalmed cadaveric dissections combined with six specimen tomodensitometry. The ILT originates from the horizontal ICA segment and passes above the abducens nerve. Three branches arise from the ILT between the cavernous ICA and the ophthalmic and maxillary nerves initial courses. The main differences with the literature are the number of branches and their cranial nerves' blood supply. The more frequent ILT conformation is the incomplete form with anterior and posterior branch (13/21); the complete form is present in 5/13 sides (38%) and the ILT is in common with the meningohypophyseal trunk in 3/21 (14%) sides. The anterior branch always vascularizes the cranial nerves into the SOF course and most often the maxillary nerve through the foramen rotundum. The posterior branch always vascularizes the mandibular nerve through the foramen ovale course and sometimes the maxillary nerve. This study has demonstrated that there are anastomoses between these branches and arteries arising from the external carotid. This study explains why the sacrifice of a branch of the ILT does not implicate cranial nerve palsy.

4.
Surg Radiol Anat ; 41(7): 763-774, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30944976

RESUMO

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.

5.
Biomaterials ; 205: 81-93, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30909111

RESUMO

Annulus fibrosus (AF) impairment is associated with reherniation, discogenic pain, and disc degeneration after surgical partial discectomy. Due to a limited intrinsic healing capacity, defects in the AF persist over time and it is hence necessary to adopt an appropriate strategy to close and repair the damaged AF. In this study, a cell-free biodegradable scaffold made of polycaprolactone (PCL), electrospun, aligned microfibers exhibited high levels of cell colonization, alignment, and AF-like extracellular matrix deposition when evaluated in an explant culture model. The biomimetic multilayer fibrous scaffold was then assessed in an ovine model of AF impairment. After 4 weeks, no dislocation of the implants was detected, and only one sample out of six showed a partial delamination. Histological and immunohistochemical analyses revealed integration of the implant with the surrounding tissue as well as homogeneously aligned collagen fiber organization within each lamella compared to the disorganized and scarcer fibrous tissue in a randomly organized control fibrous scaffold. In conclusion, this biomimetic electrospun implant exhibited promising properties in terms of AF defect closure, with AF-like neotissue formation that fully integrated with the surrounding ovine tissue.

6.
Clin Anat ; 31(3): 432-440, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29243332

RESUMO

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.


Assuntos
Quiasma Óptico/irrigação sanguínea , Idoso , Idoso de 80 Anos ou mais , Artérias/anatomia & histologia , Artérias/diagnóstico por imagem , Capilares/anatomia & histologia , Capilares/diagnóstico por imagem , Círculo Arterial do Cérebro , Feminino , Humanos , Masculino , Quiasma Óptico/diagnóstico por imagem , Microtomografia por Raio-X
7.
Surg Radiol Anat ; 40(5): 563-569, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29288395

RESUMO

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.


Assuntos
Ligamentos Longitudinais/anatomia & histologia , Vértebras Lombares/anatomia & histologia , Cadáver , Humanos
8.
Mol Ther ; 26(2): 618-633, 2018 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-29221805

RESUMO

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.


Assuntos
Músculo Esquelético/fisiologia , Mioblastos Esqueléticos/citologia , Mioblastos Esqueléticos/transplante , Regeneração , Transplante de Células-Tronco , Células-Tronco Adultas , Animais , Diferenciação Celular , Proliferação de Células , Células Cultivadas , Humanos , Camundongos , Desenvolvimento Muscular , Distrofia Muscular Animal/terapia , Distrofia Muscular de Duchenne/terapia , Medicina Regenerativa
9.
Pediatr Infect Dis J ; 37(6): 511-513, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29088025

RESUMO

BACKGROUND: Postoperative infection is a major complication of spinal surgery with implants. We aimed to identify risk factors for, and characteristics of, postoperative spinal infections in children. METHODS: We performed a retrospective observational study of all children who underwent posterior spinal fusion with instrumentation in 2 referral hospitals in 2008-2013. Spinal infections were defined as local and/or general signs of infection that required surgical treatment in the early postoperative phase (ie, within 30 days). Data were collected on a standardized questionnaire from medical charts. RESULTS: Of the 450 children who underwent spinal surgery, 26 (5.8%) were diagnosed with early postoperative spinal implant infection, with a median age of 14 years (interquartile range, 13-17) and a median delay of 13 days postsurgery (interquartile range, 7-18). Postoperative infection was more common in children with neurologic scoliosis as compared with idiopathic scoliosis (12.2% [15/123] versus 2.4% [5/211]; P < 0.01). Neurologic scoliosis was an independent predictor of spinal implant infections (hazard ratio, 3.87 [1.72-8.69]; P < 0.001). Main pathogens were Staphylococcus aureus (n = 14) and Enterobacteriaceae (n = 8). All children underwent early surgery (wound exploration, debridement and lavage) and antibiotics for a median duration of 19 weeks [interquartile range, 12-26]. Two children (7.7%) required a second surgery. Spinal implants could be retained in all, and no relapse occurred with a follow-up of ≥24 months after antibiotic discontinuation. CONCLUSIONS: Postoperative spinal implant infection is not rare in pediatric patients, especially with neurologic scoliosis. Most children may be cured with implant retention if managed with early surgery followed by a 3-month course of appropriate antibacterial agents.


Assuntos
Complicações Pós-Operatórias/microbiologia , Próteses e Implantes/microbiologia , Fusão Vertebral/efeitos adversos , Adolescente , Antibacterianos/uso terapêutico , Criança , Enterobacteriaceae , Infecções por Enterobacteriaceae/tratamento farmacológico , Feminino , Humanos , Masculino , Registros Médicos , Complicações Pós-Operatórias/tratamento farmacológico , Estudos Retrospectivos , Fatores de Risco , Infecções Estafilocócicas/tratamento farmacológico , Staphylococcus aureus , Inquéritos e Questionários , Resultado do Tratamento
10.
Surg Radiol Anat ; 39(8): 859-863, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28236130

RESUMO

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.


Assuntos
Nervo Femoral/anatomia & histologia , Perna (Membro)/anatomia & histologia , Síndromes de Compressão Nervosa/fisiopatologia , Síndromes de Compressão Nervosa/cirurgia , Nervo Pudendo/anatomia & histologia , Neuralgia do Pudendo/fisiopatologia , Neuralgia do Pudendo/cirurgia , Pontos de Referência Anatômicos , Nádegas/inervação , Nádegas/cirurgia , Descompressão Cirúrgica , Humanos
11.
Dermatol Surg ; 43(1): 87-97, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28027200

RESUMO

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.


Assuntos
Artérias/anatomia & histologia , Procedimentos Cirúrgicos Dermatológicos , Pavilhão Auricular/irrigação sanguínea , Retalhos Cirúrgicos , Cadáver , Dissecação , Pavilhão Auricular/cirurgia , Humanos
12.
Eur J Hum Genet ; 24(12): 1746-1751, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27381093

RESUMO

Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral fusion, scoliosis, short stature and carpal and tarsal synostosis. SCT is typically known as an autosomal recessive disease caused by variants in the FLNB gene. The genetic basis of the rarer cases of vertical transmissions remains unknown. In two independent families with symptoms related to autosomal dominant SCT, we identified - by exome sequencing - two protein-altering variants in the embryonic myosin heavy chain 3 (MYH3) gene. As MYH3 variants are also associated with distal arthrogryposis (DA1, DA2A, DA2B) and autosomal dominant multiple pterygium syndromes (MPS), the present study expands the phenotypic spectrum of MYH3 variants to autosomal dominant SCT. Vertebral, carpal and tarsal fusions observed in both families further confirm that MYH3 plays a key role in skeletal development.


Assuntos
Anormalidades Múltiplas/genética , Proteínas do Citoesqueleto/genética , Vértebras Lombares/anormalidades , Doenças Musculoesqueléticas/genética , Mutação , Fenótipo , Escoliose/congênito , Sinostose/genética , Vértebras Torácicas/anormalidades , Anormalidades Múltiplas/patologia , Adolescente , Adulto , Criança , Exoma , Feminino , Humanos , Vértebras Lombares/patologia , Masculino , Doenças Musculoesqueléticas/patologia , Linhagem , Escoliose/genética , Escoliose/patologia , Sinostose/patologia , Vértebras Torácicas/patologia
13.
Clin Neurophysiol Pract ; 1: 43-45, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-30214959

RESUMO

Objectives: The Sudoscan™ system (Impeto Medical, Paris, France) has been recently proposed as a standardized, easy, painless tool for sudomotor function assessment. It is now used as an additional diagnostic tool in small fibre neuropathy. So far, no work has been published in children. The aim of this study was to measure electrochemical skin conductance (ESC) using the Sudoscan™ system in children in order to assess its feasibility and to provide normative values. Methods: 100 children were included in the study: 55 girls and 45 boys, age rank 2-17, mean 10.5 y. They were accompanying their brother or sister who came as outclinic patients in the Department of Paediatrics or the Department of Paediatric surgery of the University Hospital. Results: All subjects underwent the test. It was performed without any difficulty, except for some of the youngest who sometimes had some trouble in keeping calm for 3 min over the plates. 4 subjects who took the test were excluded from the analysis (2 diabetic patients and 2 having had previous chemotherapy). ESC was quite stable along childhood with an overall 80.1 µS value for hands and 81.9 µS for feet, very similar to what is observed in adults. Conclusion: Maturation process seems to occur early in life, in accordance to sudomotor control when assessed by sympathetic skin response, which is also recorded early in infancy. Significance: ESC measurement is a simple and easy-to-perform test that can be performed in the clinical setting in children in 5 min.

14.
Orphanet J Rare Dis ; 10: 135, 2015 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-26471370

RESUMO

BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. METHODS: Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. RESULTS: Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes. CONCLUSIONS: HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.


Assuntos
Proteínas de Ciclo Celular/genética , Contratura/genética , Doenças Musculares/genética , Fibrose Pulmonar/genética , Esclerose/genética , Anormalidades da Pele/genética , Dermatopatias Genéticas/genética , Tendões/patologia , Adolescente , Adulto , Sequência de Aminoácidos , Criança , Pré-Escolar , Contratura/complicações , Contratura/diagnóstico , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Doenças Musculares/complicações , Doenças Musculares/diagnóstico , Mutação/genética , Fibrose Pulmonar/complicações , Fibrose Pulmonar/diagnóstico , Esclerose/complicações , Esclerose/diagnóstico , Anormalidades da Pele/complicações , Anormalidades da Pele/diagnóstico , Dermatopatias Genéticas/complicações , Dermatopatias Genéticas/diagnóstico
15.
Am J Hum Genet ; 93(6): 1100-7, 2013 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-24268661

RESUMO

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.


Assuntos
Proteínas de Ciclo Celular/genética , Contratura/fisiopatologia , Doenças Musculares/complicações , Mutação , Fibrose Pulmonar/complicações , Síndrome de Rothmund-Thomson/complicações , Síndrome de Rothmund-Thomson/genética , Tendões/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , Fenótipo , Síndrome de Rothmund-Thomson/diagnóstico , Adulto Jovem
16.
Surg Radiol Anat ; 34(10): 897-902, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23076729

RESUMO

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.


Assuntos
Olho/inervação , Gânglios/anatomia & histologia , Midríase/diagnóstico , Nervo Oculomotor/anatomia & histologia , Nervo Oftálmico/anatomia & histologia , Cadáver , Dissecação , Olho/anatomia & histologia , Humanos , Látex , Midríase/etiologia , Fraturas Orbitárias , Complicações Pós-Operatórias
17.
Surg Radiol Anat ; 34(7): 599-607, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22418615

RESUMO

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.


Assuntos
Artérias/anatomia & histologia , Escápula/irrigação sanguínea , Ombro/irrigação sanguínea , Cadáver , Humanos
18.
J Pediatr Orthop B ; 21(3): 269-75, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22158055

RESUMO

The aneurysmal bone cyst is a rare tumor. Its treatment is complex when localized to the lumbar spine, with neurological, mechanical, and tumoral complications. The aim of this study is to describe these tumors, their treatment, and their long-term evolution, as well as to define an appropriate therapeutic strategy. Four of the five cysts had anterior and posterior extension. Three patients had neurological symptoms at diagnosis and two of them presented with pathological fracture. Surgical treatment was performed by intralesional resection. Long-term progress was always favorable, without recurrence or functional limitation. Two patients had a stable, mild spine deformity.


Assuntos
Cistos Ósseos Aneurismáticos/patologia , Cistos Ósseos Aneurismáticos/cirurgia , Vértebras Lombares/patologia , Vértebras Lombares/cirurgia , Adolescente , Cistos Ósseos Aneurismáticos/complicações , Criança , Pré-Escolar , Feminino , Fraturas Espontâneas/diagnóstico , Fraturas Espontâneas/etiologia , Humanos , Masculino , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/etiologia , Complicações Pós-Operatórias , Recuperação de Função Fisiológica , Estudos Retrospectivos , Resultado do Tratamento
19.
Am J Hum Genet ; 87(1): 95-100, 2010 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-20602915

RESUMO

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.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 8/genética , Transportadores de Ânions Orgânicos/genética , Sulfotransferases/genética , Sinostose/genética , Deformidades Congênitas das Extremidades Superiores/genética , Adolescente , Animais , Desenvolvimento Embrionário , Feminino , Deleção de Genes , Predisposição Genética para Doença , Humanos , Hibridização in Situ Fluorescente , Masculino , Camundongos , Camundongos Knockout , Análise de Sequência com Séries de Oligonucleotídeos , Especificidade de Órgãos , Transportadores de Ânions Orgânicos/biossíntese , Linhagem , Sulfotransferases/biossíntese , Síndrome
20.
J Antimicrob Chemother ; 65(8): 1749-52, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20530506

RESUMO

OBJECTIVES: To evaluate the activity of a new cephalosporin, ceftaroline, in comparison with other antistaphylococcal drugs (linezolid and vancomycin) at projected human therapeutic doses against methicillin-resistant Staphylococcus aureus (MRSA) and glycopeptide-intermediate S. aureus (GISA) strains. METHODS: Using a rabbit experimental model of acute osteomyelitis, efficacy was assessed following 4 days of treatment by colony counts of infected bone tissues (joint fluid, femoral bone marrow and bone). RESULTS: Although vancomycin remains the standard treatment for MRSA osteomyelitis, it was ineffective against the MRSA strain and poorly active against GISA infections in this model. Ceftaroline and linezolid demonstrated significant activity in bone marrow and bone, and were significantly better than vancomycin treatment. However, ceftaroline was the only drug to exhibit significant activity against MRSA in infected joint fluid. CONCLUSIONS: The present study supports ceftaroline as a promising therapeutic option for the treatment of severe MRSA infections, including osteomyelitis.


Assuntos
Antibacterianos/uso terapêutico , Cefalosporinas/uso terapêutico , Staphylococcus aureus Resistente à Meticilina/efeitos dos fármacos , Osteomielite/tratamento farmacológico , Osteomielite/microbiologia , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estafilocócicas/microbiologia , Acetamidas/uso terapêutico , Animais , Medula Óssea/microbiologia , Osso e Ossos/microbiologia , Modelos Animais de Doenças , Feminino , Linezolida , Oxazolidinonas/uso terapêutico , Coelhos , Resultado do Tratamento , Vancomicina/uso terapêutico
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