Human liver sinusoidal endothelial cells but not hepatocytes contain factor VIII.

BACKGROUND: Although the liver is the major site of coagulation factor VIII (FVIII) synthesis, the type of cells producing FVIII within the liver is still unclear. OBJECTIVES: To measure FVIII in extracts of primary liver sinusoidal endothelial cells (LSECs) and hepatocytes, thereby preventing potential bias resulting from the modifications of the cell phenotype that can take place during in vitro culture. METHODS: LSECs were purified by flow cytometry cell sorting on the basis of their coexpression of Tie2 and CD32b. The purity of the cells was controlled by RNA sequencing. FVIII activity (FVIII:C) in extracts of purified cells was measured with a sensitive FVIII chromogenic assay, in which the specificity of the reaction is controlled by neutralization of FVIII activity with specific inhibitor antibodies. RESULTS: The FVIII:C concentration in purified LSECs ranged from 0.3 to 2.8 nU per cell. In contrast, FVIII:C was undetectable in hepatocytes. The intracellular FVIII:C concentrations are therefore at least 10-100-fold higher in LSECs than in hepatocytes. CONCLUSIONS: Our data demonstrate that LSECs, but not hepatocytes, contain measurable amounts of FVIII:C, and suggest that the former are the main cells producing FVIII in the human liver.

Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria.

Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.

[Primary sub-mandibular gland tumours: experience based on 68 cases]. / Les tumeurs primitives de la glande sous-maxillaire: à propos de 68 cas.

UNLABELLED: Sub-mandibulary gland tumours are less common than tumours of the parotid and pose many clinical and therapeutic challengers. OBJECTIVE: We report our experience of sub-mandibular tumours and review the literature. PATIENTS AND METHODS: Retrospective studies of sub-mandibular gland tumours presenting to our department between 1986 and 2000. RESULTS: 68 cases were reviewed comprising 37 benign and 31 malignant tumours (15 females and 33 males). Average age of patient was 46 years and all presented with a sub-mandibular swelling. Clinical suspicion of malignancy was associated with symptom of pain, cervical adenopathy, nerve palsy, skin and/or bone invasion. CAT Scans were performedd to assess tumour extent / invasion. Definitive diagnosis was by complete excision and pathological examination. Pleomorphic adenoma (n= 32) were the most frequent benign tumours. For malignant lesions (n= 31) the most frequent were: Adenoid cystic carcinoma (n= 10), epidermoid carcinoma (n= 5), adenocarcinoma (n= 5), mucoepidermoid carcinoma (n= 3), malignant non Hodgkinien lymphoma (n= 5). Treatment was by total surgical excision of the submandibular gland for the begnin tumours. For the malignant lesions it was associated acording to their extension with other anatomical region or in case of adenopathy with neck dissection. Radiotherapy was performed in 24 cases and chemotherapy in 10 cases. CONCLUSION: Malignity in sub-mandibular gland tumours is more frequent than in the parotid gland. Any delay in diagnosis or inappropriate management may result in a poor prognosis for the patient.

[Medial cleft of the tongue, the lower lip and the mandible]. / Fente glosso-labio-mandibulo-sternale.

INTRODUCTION: The oro-facial clefts are very frequent congenital malformations, with many clinical forms. We report an exceptional case of median cleft of the tongue, the lower lip and the mandible. CASE REPORT: Our patient was a new born, admitted in our unit for major facial malformation with swallowing disorder. The patient presented a particular form of cleft no 30 in Tessier's classification, which associated two hemi-tongues, two hemi-lower lips and two hemi-mandibles. Surgery was performed early because of the swallowing disorder. Cosmetic and functional results were positive, with 18 month follow-up. DISCUSSION: With a review of the literature, we describe this pathology, its embryologic origin, its different clinical forms and its treatment.

[Ankylosis of the temporomandibular joint: a rare manifestation of ankylosing spondylitis]. / Ankylose de l'articulation temporo-mandibulaire: rare manifestation de la spondylarthrite ankylosante.

INTRODUCTION: The ankylosing spondylitis is a chronic inflammatory rheumatoid disease with predilection in the axial structures. The temporomandibular joint (TMJ) is involved in 10 to 24% of cases. Ankylosis of the TMJ is exceptional, only 11 cases being reported to date. OBSERVATION: A 48-year-old patient had been followed since 1987 for severe ankylosing spondylitis. The patient, known to be positive for tissue antigen HLA B27, was admitted for limitation of mouth opening. At physical examination, mouth opening was reduced to 1cm with no mandibular movements and a stiffness of the cervical spine in flexion. Computed tomography of the TMJs highlighted a bilateral lesion with ankylosis of the left joint and of C1-C2. Surgical treatment consisted in block resection of the two TMJs using a cartilaginous rib. With a follow up of 9 months, results have been satisfactory. DISCUSSION: Complementary explorations should be undertaken in ankylosing spondylitis patients with clinical symptoms suggestive of TMJ lesions in order to establish the diagnosis and initiate treatment and avoid the development of ankylosic forms.

[Orbital osteoma: clinical evaluation of nine cases]. / Les ostéomes orbitaires: évaluation clinique de neuf cas.

INTRODUCTION: Osteoma of the nasosinus cavities, particularly the frontoethmoidal cavities, is often a fortuitous radiographic discovery. Potential complications include ophthalmological, sinusal, and endocranial disorders. MATERIAL AND METHODS: Nine patients (five men and four women), mean age 24.3 years (18-43) presenting orbital osteoma were managed from 1994 to 1999. RESULTS: Clinical signs were dominated by ophthalmological disorders, basically non-reducible exophthalmia (n = 8). Two patients had permanent unilateral nasal obstruction and one had acute sinusitis. The bony orbital tumefaction was located in the superior medial angle in five patients. Radiography (Blondeau view) demonstrated an opacity in the sinus with an orbital extension. Computed tomography, performed in all patients, identified the lesion location: ethmoidofrontal (n = 4), anterior ethmoidal (n = 2), frontal (n = 2), ethmoidomaxillary (n = 1). There were no endocranial extensions. Surgery was undertaken for eight patients generally via the transfacial approach (n = 7); a bicoronal approach was used for one patient. En bloc resection (n = 4) or fragmentation (n = 4) was performed. There was one postoperative complication: regressive diplopy. These patients have been followed regularly with clinical and radiographic explorations and have been free of relapse for 2 to 6 years. DISCUSSION: Frontoethmoidal osteoma is a relatively rare benign tumor. Severity depends on the orbital and endocranial extension. Imaging provides the positive diagnosis and guides the surgical approach. Therapeutic indications depend on the tumor size, its course, and the development of complications. We observed total relapse free outcome after complete resection.

[Laryngeal neuroendocrine carcinoma: a case report]. / Carcinome neuroendocrine du larynx: a propos d'un cas.

Laryngeal neuroendocrine carcinomas are uncommon and not well known tumors. Three histological subtypes, each of them with a different prognosis and treatment, can be identified. We report a case of a large cell laryngeal neuroendocrine carcinoma in 32 old-year boy who presented a right glotto-subglottic tumoral process. The patient was treated by total laryngectomy associated with bilateral functional neck dissection but without postoperative chemotherapy. A disease recurrence occured three months after surgery consisting on a massive involvment of laterocervical and sus clavicular lymph nodes. The authors discussed the clinical features, the histological and immunohistochemical characteristics, the treatment and the prognosis of laryngeal neuroendocrine carcinoma, according to literature. (full article translated in English available on www.ent-review.com).

[Ear, nose and throat pathology in human immunodeficiency virus infection]. / Pathologie de la sphère ORL au cours de l'infection par le virus de i'immunodéficience humaine.

Human immunodeficiency virus (HIV) infection, which is responsible for AIDS, is one of the most widespread in the world. Its clinical manifestations are polymorphous, and are casued by the virus itself (primary lesions) or the resulting immunodepression (secondary lesions). All the body can be affected, and the ORL organs are frequently involved. Our purpose was to describe these manifestations at all stages of the disease, and to illustrate the importance of an early diagnosis, which needs close collaboration between the clinician, the anatomopathologist and the radiologist.

[Ear, nose and throat manifestations in human immunodeficiency virus infection]

Human immunodeficiency virus [HIV] infection, which is responsible for AIDS, is one of the most widespread in the world. Its clinical manifestations are polymorphous, and are casued by the virus itself [primary lesions] or the resulting immunodepression [secondary lesions]. All the body can be affected, and the ORL organs are frequently involved. Our purpose was to describe these manifestations at all stages of the disease, and to illustrate the importance of an early diagnosis, which needs close collaboration between the clinician, the anatomopathologist and the radiologist

[Chondrosarcoma of the jaw. A case localized to the mandible]. / Chondrosarcome des os maxillaires. Une localisation mandibulaire.

Chondrosarcoma is a malignant cartilaginous tumor rarely found in the jaw bone. Tumor progression is slow with strong propensity to local recurrence after surgical removal. The prognosis is poor and depends on the degree of differentiation and the quality of the resection. We report a case of mandibular chondrosarcoma that exhibited particularly massive extension to soft tissue. We discuss the epidemiology, diagnosis, treatment and follow-up of these tumors.

[Primary hyperparathyroidism presenting as a brown tumor of the maxilla and hard palate. Apropos of a case]. / Hyperparathyroïdie primaire révélée par des tumeurs brunes des maxillaires et du palais osseux. A propos d'un cas.

Significant controversy persists in the classification of giant cell lesions of the maxillofacial skeleton. Multifocal giant cell lesions are strongly suggestive of hyperparathyroidism brown tumors. Maxillary localization is extremely rare. We report a case of primary hyperparathyroidism manifesting in the form of giant cell tumors of the maxilla, the hard palate and long bones. Biochemistry confirmed the diagnosis. Computed tomography localized the parathyroid tumor at the cervicothoracic junction in the retrosternal area. We discuss the clinical features of skeletal involvement in primary hyperparathyroidism and stress the need for ionized serum calcium assay in case of giant cell tumors of the cranial bones.

[Thyroid tuberculosis associated with papillary microcarcinoma of the thyroid gland: a case report]. / Tuberculose thyroïdienne associée à un microcarcinome papillaire thyroïdien: à propos d'un cas.

Tuberculosis of the thyroid gland is extremely uncommon. The infection may present first in the thyroid gland or appear secondary to a tuberculous process elsewhere in the body. The diagnosis is rarely made clinically because the different presentations of the disease often mimick malignancy or euthyroid nodular goitre. It is of interest to report a case of tuberculosis of the thyroid associated with papillary microcarcinoma of the gland. No tuberculous process elsewhere in the body has been found. The frequency of MCP on thyroidectomy specimens suggest that this association is incidental.

[Exostosis of the zygoma. Apropos a case]. / L'exostose du zygoma. A propos d'un cas.

Exostosis is a benign bony process arising from cortical bone. It is generally localized at the fertile metaphysis of long and some flat bones. Localization to the zygoma and/or the coronoid process is exceptional (5 cases in the world literature). We report an original case of exostosis with isolated zygomatic localization in a 14-year-old girl and review the literature. We emphasize the clinical features and the diagnostic and therapeutic approach in this condition.

[Osteosarcoma of the jaws. Apropos of 12 cases]. / Les ostéosarcomes des maxillaires. A propos de 12 cas.

We report 12 cases of osteosarcoma (10 located in the mandible and 2 in the maxilla). There were 8 men and 4 women who were older than usually observed in osteosarcoma at other sites (8 of 121 patients were over 30 and the average age was 34 years). Clinical signs were variable. Bone tumefaction was the most frequent sign, with a diameter greater than 5 cm in most cases (10 out of 12). Surgery alone was used for 8 patients and radiosurgery for 3. Follow-up is available for 8 patients. All presented local recurrence with extensive tumors progression. All died within an interval of 3 to 30 months despite palliative surgery and/or radiotherapy or chemotherapy.

Parameningeal rhabdomyosarcoma. Report of 19 cases.

Parameningeal rhabdomyosarcomas are associated with a poor long term survival. This is due to the fact that they are aggressive tumours with early involvement of the skull base. The authors report a series of 19 cases between 1984 and 1995 with a relative proportion of children, male patients and tumours of embryonal type. Three patients were operated on and only one of them was found with tumour free margins. Systemic chemotherapy using the VAC-VAd protocol was administered in 18 patients and intrathecal chemotherapy was delivered in 5 patients with involvement of the skull base. Nine patients were irradiated with doses varying from 45 to 55 Gy. Twelve patients died from 20 days to 4 years after initial treatment; 6 were lost to follow up and only one patient is living without any evidence of disease after 11 years.

[Osteoradionecrosis of the jaws. Apropos of 7 cases]. / L'ostéoradionécrose des maxillaires. A propos de 7 cas.

Jaw osteoradionecrosis (ORN) is one of the most serious complications of cervico-facial cancer irradiation. Severity is related to major bone lysis and the difficult medical and surgical treatment. We report our experience in seven cases over a ten-year period. Mandibular localization was predominant (85%). The mean age of the patients was 36 years. The average delay to development of ORN was 5.5 years. The treatment was medico-surgical, based on wide surgical exeresis (6/7), frequently via endobuccal surgical approach (4/7). Prevention remains the best treatment of ORN associated with an accurate management of all patients who need radiotherapy.

[Wegener's granulomatosis. Apropos of a case]. / Granulomatose de Wegener. A propos d'un cas.

A rare case of granulomatosis of Wegener is rapported in this study. One patient presented with ENT and pulmonary symptoms. The differential diagnosis with tuberculosis was raised. Based on a literature review, the authors discuss clinical, pathological and imaging features of the condition and its management.

[Myxoma of the upper jaw. Apropos of a case]. / Myxome du maxillaire supérieur. A propos d'un cas.

We report a patient with odontogenic myxoma of the upper maxillary. The authors underline for this particular case, that there are no clinical features specific of the tumor; the diagnosis can be only histological. The evolution of this tumor is always benign.

[Cholesteatoma of the middle ear in children. Apropos of 160 cases]. / Le cholestéatome de l'oreille moyenne chez l'enfant. A propos de 160 cas.

Cholesteatoma of the middle ear in children is a current topic and authors are not yet unanimous as far as surgical treatment is concerned. We report our experience on 160 cases of cholesteatoma observed in 150 children aged from 4 to 15 years old. The first complications represent the reason for consulting in 36% and bilateral affection in 15% of the cases. We have practised the "open technique" in 62%, the "closed technique" in 38% of the cases. The "second look" operation for a residual cholesteatoma, or a recurrence constitute 26% of cases after the closed technique. Our choice of the open technique is explained by the social and economic standard of the patients, the state of the mastoid, the frequency of the complications mainly intracranial ones, and the types of lesions encountered during the operation. According to this serie, we can review the data of the literature, and analyse the different points of view.