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Biomedical subjects

J Fain

Publications and source records attributed to J Fain.

At least 19 recordsLinked to original sources
PubMed2001

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Isolated strabismus affects 1-5% of the general population. Most forms of strabismus are multifactorial in origin; although there is probably an inherited component, the genetics of these disorders remain unclear. The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DURS). Neuropathologic studies indicate that these disorders may result from the maldevelopment of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. To date, five CFS loci have been mapped (FEOM1, FEOM2, FEOM3, DURS1 and DURS2), but no genes have been identified. Here, we report three mutations in ARIX (also known as PHOX2A) in four CFEOM2 pedigrees. ARIX encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish. Two of the mutations are predicted to disrupt splicing, whereas the third alters an amino acid within the conserved brachyury-like domain. These findings confirm the hypothesis that CFEOM2 results from the abnormal development of nIII/nIV (ref. 7) and emphasize a critical role for ARIX in the development of these midbrain motor nuclei.

Amino Acid Sequence↗
PubMed1999

[Arteriovenous malformations in the jaws. The place of intravascular therapy. Apropos of 14 cases].

PURPOSE: To analyze arteriovenous malformations (AVMs) of maxillo-mandibular arcades seen in our department since 1977, and to determine adequate treatment. MATERIAL AND METHODS: Fourteen AVMs were reviewed to determine their revelation, their semiology, the treatment applied and the results that could be obtained. All these lesions were true AV shunts involving bone with or without soft tissue extension. RESULTS: Eight patients belonged to the pediatric population. Six lesions were maxillary and 8 mandibular. All lesions were revealed during or after puberty by local swelling, pain, mass effect or bruit. Hemorrhage was the most frequent (71%) symptom. Teeth instability was detected in all these patients and was origin of the bleeding. The lesions were suspected clinically and confirmed radiologically. Angiography analyzed properly the architecture of the lesion (4 arteriovenous fistulas). Embolization was the clinical treatment in all patients: particles helped to stabilize the acute situations but failed to offer stable results, necessitating complementary embolizations and/or surgery (hemimandibulectomy in 2 patients). The use of acrylic glue (Histoacryl), injected percutaneously (5 patients), or transarterially in the AVM (4 patients)) provided cure in 6 of these lesions (43%) and long term stabilization for all the other AVMs. Teeth extraction could be performed thereafter in good conditions. Antibiotics and anti-inflammatory treatment helped to stabilize the evolutive risk of these lesions. CONCLUSION: Embolization is the therapy of choice in these lesions. Appropriate use of glue offers a high rate of cure and/or clinical stabilizations and avoids unneeded surgery.

Adolescent↗
PubMed1988

A, B, and H substances in syringomas. An immunohistochemical analysis of 15 cases.

This study examines the distribution of A, B, and H substances in 15 syringomas and 11 control axillary skins. Monoclonal antibodies (MCABs) against A, B, and H substances with the avidin-biotin-peroxidase complex (ABC) method were used. Additionally, the H antigen was localized with Ulex europaeus Agglutinin-I (UEA-I) by use of the peroxidase-antiperoxidase method. The MCABs provided specific and reproducible staining of all 15 syringomas as well as the secretory coli and duct of normal eccrine glands. Contrariwise, apocrine and sebaceous glands were uniformly nonreactive. The staining by the UEA-I technique showed a similar pattern to that of the anti-H MCAB but with increased background (nonspecific) staining. These results, using state-of-the-art immunohistochemistry, confirm the eccrine origin of syringoma. Blood group substances may be useful in distinguishing other tumors of eccrine origin from those of apocrine origin.

Adenoma↗
PubMed1984

[Surgical indications in craniofacial injuries].

Precise definition of indications for surgery in patients with craniofacial injury is impossible, and individual assessment of each case by the surgeon can be a source of errors. These may be due to excess or omission when confronted with bone lesions which fail to supply information on the state of the dura mater, and with rhinorrhea with lack of sufficient criteria to assess the condition of the dura mater and its capacity for healing. Indications should therefore be modulated as a function of the different anatomoclinical types involving different risks. On the other hand, one should not search for perfection since other factors are involved when operating under emergency conditions, and one must not err by presumption, knowing that no reconstruction is perfect.

Craniocerebral Trauma↗
PubMed1982

Fatty acid synthesis in rat fetuses with intrauterine growth retardation.

The effect of uterine artery ligation at 17 days of gestation to induce intrauterine growth retardation (IUGR) on fetal fatty acid synthesis was studied in pregnant rats. Significant impairment in fatty acid synthesis was observed in fetal liver and lung tissues. The specific activity of fatty acids at 19 days of gestation in the liver was lower in the IUGR rats, as compared to controls, 44.6 +/- 13 versus 87.9 +/- 10 cpm/mumol fatty acids (p less than .05). At 21 days of gestation, the specific activity of fatty acids was 40.6 +/- 7.8 as compared to 75.8 +/- 9.8 cpm/mumole in the IUGR and control fetuses, respectively (p less than .05). In lung, the specific activity of fatty acids was 25.7 +/- 5.4 cmp/mumole in IUGR fetuses as compared to 46.6 +/- 9 cpm/mumole in control littermates at 19 days (p less than .05). This difference persisted at 21 days since the specific activity was 32.2 +/- 2.4 in experimental fetuses as compared to 42.6 +/- 3.0 cpm/mumole in controls (p less than .05). Brain and placental tissues demonstrated no statistically significant differences in specific activity at either time in gestation. The total fatty acid content per organ for both liver and lung was also reduced in the IUGR group. Decreased substrate transfer from mother to fetus during placental insufficiency may account for decreased lipogenesis in the IUGR fetus. Brain and placental tissues are spread despite significant compromises in liver and lung capabilities for fatty acid synthesis.

Animals↗
PubMed1981

Fractures of the frontal sinus.

Fractures of the frontal sinus are frequently seen in patients with cranio-facial injuries. Trauma to the posterior wall and more deeply located tissues: anterior fossa, dura and brain, give an indication of the seriousness of such injuries. We point out some particular aspects of our experience; in the neurosurgical approach to such lesions; we use a classification based on treatment: -when the posterior wall of the sinus is not, or only slightly damaged, we drain it using a thin suction catheter pulled through the fronto-nasal duct, kept in place for six to ten days. -when a comminuted fracture of the frontal arch occurs in the sinus area, a large cortico-cancellous onlay bone graft is used to rebuild a harmonious frontal contour and avoid the risk of secondary deformity.

Adolescent↗
PubMed1981

The use of a single fronto-zygomatic osteosynthesis plate and a sinus balloon in the repair of fractures of the lateral middle third of the face.

In certain orbito-zygomatic fractures, a fronto-zygomatic screwed plate and a sinus balloon permit, at the expense of a single eyebrow incision, the repositioning of the cheekbone and the alignment of the other fracture sites; the other fractures sites consolidate and remodel themselves spontaneously due to the action of the adjacent soft tissues. The plate is malleable so that correct reduction can occur during the course of surgical repair; the plate should align the cheekbone perfectly. Neglect of the stability offered by reduction after exposure of the bone fragments may seem exaggerated, in simple cases; the orbital approach is without risk and limited. This argument - which also depends on the experience of the surgeon - does not apply in the case with a comminution of the orbital rim; closed fracture site reduction and distant osteosynthesis offer an alternative to the classical repair which requires a wide cutaneous incision and significant periosteal stripping with the subsequent risk of eyelid distortion.

Bone Plates↗
PubMed1981

Effect of quinacrine on nuclear structure and RNA synthesis in cultured rat hepatocytes.

The effects of quinacrine, an antimetabolite which intercalates into DNA, on the ultrastructure of interphase nuclei and on RNA turnover were studied in primary cultures of rat hepatocytes. Procedures included ultrastructural cytochemical staining for ribonucleoprotein and DNA, autoradiography, and measurement of labeled uridine uptake and incorporation. Addition to the culture medium of a nontoxic dose (10 microM for 30 min) reduces the net accumulation of labeled uridine in RNA. This involves first heterogeneous RNA and then ribosomal RNA since their structural precursors, interchromatin fibrils and nucleolar fibrils, respectively, diminish in that order. Intranucleolar chromatin retracts, and perinucleolar chromatin becomes unusually condensed. A toxic dose (50 microM for 30 min) produces greater inhibition of tritiated uridine incorporation in RNA. This precedes and is not due to a drop in uridine uptake into the cells. Toxic doses produce unusually large clusters of interchromatin granules which are embedded in an unusual dense material which stains positively for ribonucleoprotein. Three regions of the chromatin are altered. (a) Perinuclear condensed chromatin retracts from the nuclear envelope, remaining attached by short DNA-containing bridges. (b) The normally dispersed nucleoplasmic chromatin condenses into a stainable network which retracts centrifugally. (c) Perinucleolar chromatin becomes a network of small highly condensed masses or bands interconnected by fibrils which are either decondensed or stretched. These alterations in chromatin structure probably form the basis of quinacrine-impaired nuclear metabolism.

Animals↗
PubMed1980

[Effects of trauma to the facial bones on the anterior shelf of the base of the skull (author's transl)].

The different types of fractures of the upper jaw and facial bones and their extension to the anterior wall of the frontal sinus are discussed. Possible effects on the bony floor of the anterior shelf of the base of the skull and subjacent meninges are outlined. These injuries are then reviewed as part of the larger picture of lesions of the middle third of the craniofacial region. Several types can be distinguished:I.--Lesions in the anterior wall of the frontal sinus only, II.--Lesions affecting the base of the facial bones, III.--Lesions in the frontal vault radiating to the base, IV.--Direct lesions of the middle third, V.--Isolated lesions from back-lash or distortion, VI.--External fronto-orbital impactions. Only types 2, 3, 4, and 5 affect the middle third of the endocranial region. As far as the risk of fistula formation is concerned, facial lesions (type 2) have a good prognosis, while frontal lesions (type 3, 4, and 5) have a poor prognosis. This criterium can assist in making decisions, after superficial examination of the lesions, whether to employ major surgery or not in a deep, difficult region.

Brain Injuries↗