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PubMed1983

CSF-contacting pinealocytes in the pineal recess of the Mongolian gerbil: a correlative scanning and transmission electron microscope study.

The pineal recess of the Mongolian gerbil was studied using correlative scanning and transmission electron microscopy. The surface of the pineal recess can be subdivided into three distinct zones: (1) central, (2) transitional, and (3) peripheral. In the gerbil, the deep pineal gland is located deep to the central and transitional zones. The ependyma of the peripheral zone is densely ciliated and resembles that of the main ventricular lining. Ependymal cells of the transitional zone are sparsely ciliated but possess numerous microvilli on their apical surfaces. Supraependymal neurons were identified in the transitional zones. These cells appear to make a synaptic-like contact with the underlying ependymal cells. Of the three zones, the central zone demonstrated the greatest amount of morphological variability. Although a number of supraependymal structures could be identified in the central zone, the most remarkable feature was the presence of protruding cells that possessed no significant surface features. Employing correlative transmission electron microscopy, the protruding cells were shown to be CSF-contacting pinealocytes. The number of CSF-contacting pinealocytes present in the central zone varied from one cell to large clusters that covered the entire zone. The results of this investigation demonstrate the presence of a direct contact and the potential for interaction between the deep pineal gland and the CSF of the pineal recess in the gerbil.

Animals↗
PubMed1995

Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder.

The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS.

Adolescent↗
PubMed2002

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.

Two new loci, PARK6 and PARK7, for autosomal recessive early-onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees. Among 4 autosomal recessive early-onset families analyzed here, 2 supported linkage to PARK7, 1 with conclusive evidence. These data confirm localization of autosomal recessive early-onset parkinsonism to PARK7, suggesting it to be a frequent locus. Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p.

Adult↗
PubMed1992

Sex-linked recessive lethal test of Drosophila melanogaster after exposure to 50-Hz magnetic fields.

To determine whether a 50-Hz magnetic field will induce mutations, a sex-linked recessive lethal test of Drosophila melanogaster was performed. Adult flies were exposed at an rms flux density of 500 mu T or 5 mT to the homogeneous field of a Helmholtz coil. The ambient field to which controls were exposed was less than 1 mu T. Exposures took place continuously for 13 to 14 days, which correspond to the life cycle of Drosophila at 25 degrees C. About 10,000 X-chromosomes were tested at each flux density. Recessive lethal mutation rates of 0.13, 0.21, and 0.18 percent were observed, respectively, for control, 500-mu T, and 5-mT conditions. By the Kastenbaum-Bowman significance test, the recessive lethal mutation rates in the 500-mu T and 5-mT conditions did not differ from the mutation rate of controls.

Animals↗
PubMed2003

The term "lateral recess" and craniofacial pneumatization in old world monkeys (Mammalia, Primates, Cercopithecoidea).

The primate superfamily Cercopithecoidea (or Old World monkeys) is characterized by a widespread lack of the maxillary sinus, a paranasal pneumatic space found in most other eutherian mammals. Previous discussions of the distribution of pneumatization in the group, however, have been ambiguous and contradictory, and have been further complicated by discussion of a poorly defined structure named the "lateral recess," linked implicitly to the maxillary sinus. Computed tomography (CT) was applied to dry crania of all cercopithecoid genera to evaluate the morphological relevance of the term "lateral recess." Results suggest that the "lateral recess" is a structural consequence of changes in skull form unrelated to pneumatization. Thus, the term should be abandoned. All Old World monkeys (except the genus Macaca) are found to lack the maxillary sinus, but a previously undescribed bulla, only separated from the nasal cavity anteriorly, was discovered in the Chinese golden monkey Rhinopithecus. If this bulla is related to the paranasal sinuses, it suggests that the initial change in cercopithecoid cranial evolution was a suppression of pneumatic development, which may have been subsequently reversed twice in the history of the group, in Macaca and Rhinopithecus.

Animals↗
PubMed1989

Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica.

Myoballs, i.e., spherical muscle cell regenerates, were cultured from the biopsied muscles of three patients with myotonic dystrophy, three patients with recessive generalized myotonia, and a patient with adynamia episodica. The membrane of these myoballs was voltage-clamped in the whole-cell mode for the recording of sodium currents (at 11, 24, and 37 degrees C). The voltage dependence of the steady-state activation and inactivation curves showed only minor abnormalities in all cases. The time constants of activation (tau m) and inactivation (tau h), when studied at the three temperatures, showed a characteristic pattern of abnormalities. In myotonic dystrophy, both tau m and tau h were larger than control; in recessive generalized myotonia and adynamia episodica both tau m and tau h were smaller than control. In the latter diseases, these time constants also showed a smaller than normal decrease with membrane depolarization. The changes seen for recessive generalized myotonia and adynamia episodica would favour the occurrence of myotonia, the opposite results for myotonic dystrophy would oppose myotonia.

Action Potentials↗
PubMed1987

Analysis of the dosage controversy in recess-resect and Faden surgery with the Robinson computer model of eye movements.

In recess-resect surgery, the dosage depends on the preoperative angle of squint and on the ratio between squint-angle reduction and dosage that the surgeon has found in previous surgery. Recommendations pertaining to this ratio vary widely among authors. Some say a recession does more than a resection, while others believe the opposite is true. Finally, most find a lower ratio at smaller preoperative angles of squint. We investigated the matter, using our modified version of the Robinson computer model of eye movements. We calculated the amounts of surgery needed to reduce 10, 15, 20, 25, and 30 degree angles of squint to zero. The increase of the ratio at large angles of squint was indeed predicted by the model. The decrease at small angles of squint, however, was not predicted by the model. We found it impossible to model the decrease of the ratio at small preoperative angles of squint. The ratios for recess and resect surgery were approximately similar. We present an inventory of the possible causes of the discrepancies. In addition, we calculated the effects of Faden surgery and found that the predictions of the computer model correspond closely to reality.

Computers↗
PubMed1992

Autosomal recessive polycystic kidney disease.

Autosomal recessive polycystic kidney disease is a rare inherited disorder which usually becomes clinically manifest in early childhood, whereas autosomal dominant polycystic kidney disease usually is a disorder of adult onset. With increasing knowledge and improving diagnostic techniques, it becomes evident that the spectrum of both entities is much more variable than generally known. The presentation of autosomal recessive polycystic kidney disease at later ages and survival into adulthood have been reported. The diagnostic criteria, clinical course, genetics and differential diagnosis of autosomal recessive polycystic kidney disease will be presented.

Caroli Disease↗
PubMed1992

Clinical, light and electron microscopic features of recessive ichthyosis congenita type III.

The recessively inherited congenital ichthyoses have ultrastructural features which indicate abnormal epidermal lipid metabolism. The ultrastructural markers of the three recessive congenital ichthyosis groups are lipid droplets in horny layers (type I), cholesterol clefts (type II) and membrane structures (type III). We describe six patients from five families belonging to the last group. The variable clinical phenotype alone does not allow the delineation of this disease, but together with the ultrastructural characteristics the subtype is unequivocal. In addition to the membrane structures, half of the cases showed abnormal keratinosomes and vesicular complexes. Membrane-bound vacuoles and needle-like slits were exceptionally found. The onset of the ichthyosis was variable, in contrast to other patients described under the heading recessive congenital ichthyosis.

Adult↗
PubMed1993

Nd:YAG laser trabeculopuncture (YLT) for glaucoma with traumatic angle recession.

Traumatic angle recession caused by blunt trauma often induces uncontrollable glaucoma despite the maximum medical therapy tolerated, such as argon laser trabeculoplasty (ALT), with no or little benefit. Therefore, instead of ALT, we tried Nd:YAG laser trabeculopuncture (YLT) on 11 patients with this type of glaucoma. The intraocular pressure of these patients was followed up for 15 +/- 7 months (average +/- SD). In 6 of 7 eyes treated initially with YLT, the IOP was significantly reduced, so medication was discontinued. Four other cases with uncontrollable IOP after failed ALT were treated with YLT. The IOP of 3 cases was successfully controlled by medication after YLT. These YLT results were then compared with those of ALT in 11 glaucoma patients with traumatic angle recession. Seven of 11 cases treated initially with ALT failed in less than 3 months, and surgical intervention or additional laser treatments were required. The probability of success from the time-series analysis at 12 months after each laser application was 0.909 in YLT, 0.273 in ALT. YLT offers significant advantages over ALT for the treatment of glaucoma with traumatic angle recession after blunt trauma and thus merits further study.

Adolescent↗
PubMed1996

Cerebellomedullary compression in recessive craniometaphyseal dysplasia.

Craniometaphyseal dysplasia (CMD) is a very rare disorder of bone remodelling characterised by sclerosis of the skull base, vault and facial bones and metaphyseal splaying of tubular bones. The recessive form appears to be more severe than the dominant. Cranial nerve deficits have been reported in infancy and early childhood in a few patients, but the long-term history of recessive CMD is not well documented. We report cerebellomedullary compression in a girl with recessive CMD recognised at 14 years because of progressive truncal ataxia. MRI revealed backward angulation of the thickened clivus, narrowing of the foramen magnum and upward deviation of the cerebellum by a markedly thickened occipital squama, tonsillar herniation and obliteration of the infratentorial cerebrospinal fluid spaces. Posterior cranial fossa decompression resulted in marked improvement of the ataxia. Compression of posterior cranial fossa structures has to be considered in the natural history and management of CMD.

Brain Diseases↗
PubMed1999

[Retroequatorial myopexy combined with bimedial recession for near-distance disparity esotropia].

PURPOSE: In cases of esotropia combined with a high AC/A ratio, partly accommodative convergence excess or with nonaccommodative convergence excess, two methods of surgical therapy are possible: recession of the medial recti (Parks) and retroequatorial myopexy (Cüppers). Our aim was to answer the question whether retroequatorial myopexy alone and in combination with bimedial recession are appropriate methods of reducing the strabismic angle at near and distant fixation to values under 10 PD and near-distance disparity to less than 10 PD to form the basis for single binocular vision without bifocals. PATIENTS AND METHODS: Eighty-three patients, aged 2-14 years (39 boys and 44 girls), were included in the study: 37 children (group A) with early-onset near-distance esotropia of 14-48 PD for distance and 26-65 PD for near objects and 46 children (group B) with acquired near-distance esotropia of 8-45 PD for distance and 26-70 PD for near objects. Inclusion criteria were a near-distanced disparity of at least 10 PD (range 10-33 PD), a follow-up of at least 3 months (median 5 months, range 3-69 months), retinoscopy in cycloplegia and full refractive correction. The amount of conventional surgery was chiefly based on the distance angle of esotropia. The myopexy was placed 12, 13 and 14 mm behind the insertion of the medial rectus. RESULTS: In 73 of 83 patients (88%) we were able to reduce the strabismic angle for distance and near fixation to less than 10 PD and in 73 cases even under 5 PD. In 77 of 83 patients (93%) the near-distance disparity was reduced to less than 10 PD and in 72 patients (87%) even under 5 PD. Postoperatively, 9 children had bifocals, but 3 of them have meanwhile discarded them. Two cases were slightly ocvercorrected and 1 case undercorrected. Seventy children (84%) attained grade of binocularity. CONCLUSION: Retroequatorial myopexy (fadenoperation) alone and combined with bimedial recession is an effective procedure in treating esotropia with abnormal near-distance disparity.

Adolescent↗
PubMed2005

The recessive potyvirus resistance gene pot-1 is the tomato orthologue of the pepper pvr2-eIF4E gene.

The translation initiation factor 4E (eIF4E) has been implicated in naturally occurring resistance to Potato virus Y (PVY) determined by the pvr2 locus in pepper (Capsicum annuum). Here, the molecular basis of the recessive resistance to PVY and Tobacco etch virus (TEV) controlled by the pot-1 locus in tomato (Lycopersicon esculentum; now Solanum lycopersicum) was investigated. On the basis of genetic mapping data that indicated that pot-1 and pvr2 are located in syntenic regions of the tomato and pepper genomes, the possible involvement of eIF4E in pot-1-mediated resistance was assessed. Genetic mapping of members of the eIF4E multigenic family in tomato introgression lines revealed that an eIF4E locus indeed maps in the same genomic region as pot-1. By comparing eIF4E coding sequences between resistant and susceptible Lycopersicon genotypes, a small number of polymorphisms that co-segregate with the pot-1 locus were identified, suggesting that this gene could be involved in resistance to potyviruses. Functional complementation experiments using Potato virus X-mediated transient expression of eIF4E from a susceptible genotype in a resistant pepper genotype confirmed that a small number of amino acid substitutions in the eIF4E protein indeed account for resistance/susceptibility to both the PVY and TEV, and consequently that pot-1 and pvr2 are orthologues. Taken together, these results support the role of this eIF4E gene as a key component of recessive resistance to potyviruses, and validate the comparative genomic approach for the molecular characterization of recessive resistance genes.

Amino Acid Sequence↗
PubMed1979

Autosomal recessive non-syndromal progressive sensorineural deafness in childhood. A separate clinical and genetic entity.

In a family with 11 children, three sibs (two boys and a girl) show progressive sensorineural deafness, first noticed at ages 4, 7 and 11, respectively. The progression of deafness was registered in each of these sibs over a period ranging from 9 to 15 years. The speech perception has simultaneously diminished, as observed also in the case of recruitment. The parents and the other sibs in this family have normal hearing. The parents were demonstrably consanguineous, and autosomal recessive transmission is therefore postulated. A syndromal diagnosis could not be established because general physical, neurological ophthalmological and haematological examination as well as urinalysis revealed no associated characteristics. A syphilitic infection was therefore also excluded as a possible cause. Pendred's syndrome was excluded by means of a potassium perchlorate test. It is believed that these three sibs are suffering from autosomal recessive non-syndromal progressive sensorineural deafness - a type of deafness hardly mentioned in the literature. Several authors differentiate this type of deafness from autosomal recessive early-onset neural deafness.

Adolescent↗
PubMed1986

Ependymal lining of infundibular recess in perinatal rats: relationships with portal capillaries and permeability.

Structure and permeability of the ependymal lining the infundibular recess were studied in perinatal rats with silver impregnation, electron microscopy, radioautography, and tracer techniques. According to our data basal processes of ependymal cells reach the primary portal plexus linking the 3rd ventricle and the hypophysial portal system all through the perinatal period. After birth, some of the processes penetrate into the perivascular space of the primary portal plexus and abut there on the endothelium of capillaries. Ependymal cells of fetuses and neonates are joined by specialized junctions (tight junctions, gap junctions and zonulae adhaerentes). Intraventricularly injected ionic lanthanum crosses the ependymal lining of fetuses both trans- and extra-cellularly everywhere in the infundibular recess. By postnatal day 9 only the rostral portion of the recess remains readily permeable. Caudally, extracellular leakage becomes highly restricted, apparently due to the appearance of circumferential tight junctions. Finally, [3H]dopamine seems to penetrate through the ependymal lining in the same way as ionic lanthanum entering the portal capillaries. These findings suggest that the adenohypophysiotropic neurohormones can penetrate from the cerebrospinal fluid into the portal circulation from the very beginning of the establishment of the hypothalamo-hypophysial functional relationships during ontogenesis.

Animals↗
PubMed2007

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].

UNLABELLED: Mutations of the connexin 26 gene, GJB2, are the most common cause of non syndromic autosomal-recessive hearing loss. One of the GJB2 mutations, the 35delG, is recurrent in European and Mediterranean populations with allelic frequency of at least 70% in patients with hearing loss caused by GJB2 impairment. OBJECTIVES: To determine the prevalence of the 35delG mutation in non-syndromic autosomal-recessive deafness in Morocco. PATIENTS AND METHODS: We looked for the 35delG mutation among 25 non-related Moroccan children suffering from an autosomal recessive hearing loss. A screening for GJB2 mutations, and then a search for GJB6 deletions were carried out among patients who do not bear the 35delG. RESULTS: Twelve patients were homozygous for the 35delG mutation. This mutation was responsible for almost half of the hearing loss among our patients (48%). There was no other GJB2 or GJB6 mutation among 13 patients. CONCLUSION: This study underlines the advantages of a systematic search for this mutation among deaf children when environmental causes are considered irrelevant. The identification of this genetic anomaly signs the etiologic diagnosis of deafness, which allows a relevant genetic advice, and a better treatment of patients.

Adolescent↗
PubMed2004

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linked to apolipoprotein (apo) B gene. Abetalipoproteinemia (ABL) is a recessive disorder due to mutations of microsomal triglyceride transfer protein (MTP) gene. We investigated a patient with apparently recessive hypobetalipoproteinemia consistent with symptomatic heterozygous FHBL or a "mild" form of ABL. The proband had fatty liver associated with LDL-cholesterol (LDL-C) and apo B levels <5th percentile but no truncated apo B forms detectable in plasma. MTP gene sequence revealed that he was a carrier of the I128T polymorphism and an unreported amino acid substitution (V168I) unlikely to be the cause of hypobetalipoproteinemia. Apo B gene sequence showed that he was heterozygous for two single base substitutions in exon 9 and 22 resulting in a nonsense (Q294X) and a missense (R1101H) mutation, respectively. Neither of his parents carried the Q294X; his father and paternal grandmother carried the R1101H mutation. Analysis of polymorphic genetic markers excluded non-paternity. In conclusion, the proband has a "de novo" mutation of apo B gene resulting in a short truncated apo B form (apo B-6.46). Sporadic cases of FHBL with an apparently recessive transmission may be caused by "de novo" mutations of apo B gene.

Abetalipoproteinemia↗
PubMed2006

Prevalence of "high-riding" superior pericardial recesses on thin-section 16-MDCT scans.

OBJECTIVE: The aim of this study was to evaluate the prevalence of "high-riding" superior pericardial recess (HRSPR) on thin-section (1 mm) 16-multidetector computed tomography (MDCT) scans. MATERIALS AND METHODS: Three hundred and fourteen consecutive chest CT scans obtained with a thin-section 16 MDCT were retrospectively evaluated. The prevalence and characteristic of HRSPR were analyzed. RESULTS: HRSPR was depicted in 21 patients (11 men and 10 women) (6.6%) who ranged in age from 28 to 72 years (mean age, 57 years). The extended recesses were rounded/oval shaped in five patients and triangular, spindle, half moon or irregular shaped in the other 16 patients. CONCLUSION: Our data suggest as HRSPRs are more frequently and better depicted on thinsection MDCT scans, and this improves the capability to distinguish this superior extension of the superior aortic recess from abnormal findings such as lymphadenopathy, cystic lesions, and aortic dissection.

Adult↗