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PubMed1994

Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.

OBJECTIVE: To determine the variability and the natural course of children suffering from autosomal recessive osteopetrosis to allow optimal counseling and decision making with respect to therapeutic intervention. DESIGN: Retrospective and longitudinal evaluation of clinical symptoms and natural course with emphasis on survival and sensoneurologic and hematologic findings. SETTING: Two large referral-based pediatric bone marrow transplantation units in Europe. PATIENTS: Thirty-three patients with autosomal recessive osteopetrosis admitted to units in Paris and Leiden between 1972 and 1988 were analyzed until last follow-up or the time at which bone marrow transplantation was performed. The great number of patients and unprecedented amount of data make this report one of the single largest clinical studies on autosomal recessive osteopetrosis. MAIN RESULTS: Ocular involvement occurring at a median age of 2 months was the symptom at initial examination in half of the patients. A striking variability between patients was found. Retinal degeneration was present in three patients and associated generalized neurodegeneration was present in two. The probability of survival until the age of 6 years was about 30% for the group as a whole. The cumulative risk of developing visual or hematologic impairment in the first year of life was about 75% and leveled off afterward. Patients with early hematologic impairment, ie, before 3 months of age, especially when combined with early visual impairment, had a very poor prognosis regarding life expectancy. CONCLUSIONS: Autosomal recessive osteopetrosis seems to be a variable disorder with a poor prognosis, especially in children with early visual and hematologic impairment. Allogenic bone marrow transplantation remains the only curative approach.

Bone Marrow Transplantation↗
PubMed1994

[Genetic structure of populations and characteristics of geographic distribution of autosomal recessive diseases in the Kirov region].

The genetic structure of human populations inhabiting Kirov region is described. The effect of genetic drift on geographical distribution of families with autosomal recessive diseases is analyzed. Genetic distances were calculated from frequencies of occurrence of certain family names and frequencies of autosomal recessive genes encoding hereditary diseases. Cluster analysis based on matrices of genetic distances showed that descriptions of the genetic structure obtained using these two methods are in good agreement with one another. It is shown that genetic drift is the principal factor determining the territorial distribution of autosomal recessive genes within population of Kirov region. This conclusion is based on local accumulation of families suffering from autosomal recessive diseases.

Cluster Analysis↗
PubMed1997

Gingival recession: a cross-sectional clinical investigation.

In this cross-sectional study, risk and potentially causative factors of gingival recession were examined and their relationship to apical migration of the gingival margin evaluated. Thirty eight patients (18-60 years), displaying one or more sites with gingival recession but without any significant periodontal disease participated. A total of 28 parameters were evaluated in both 'test' teeth (50 teeth with gingival recession) and 'control' teeth (50 contralateral teeth). The results revealed that gingival margin recession was associated with both high inflammatory and plaque scores, with decreased widths of keratinized and attached gingiva and with the subjects' toothbrush bristle hardness.

Adolescent↗
PubMed2005

Multiplanar computed tomographic analysis of frontal recess cells: effect on frontal isthmus size and frontal sinusitis.

BACKGROUND: Frontal recess anatomy can be very complex, with accessory cells such as frontal, agger nasi, and intersinus septal cells encroaching on the frontal recess and possibly contributing to obstruction of the frontal sinus. In this study, we determined the prevalence of these cells and their relationship to frontal sinusitis in patients who have (revision group) and have not (primary group) had previous sinus surgery. DESIGN: Multiplanar computed tomographic images were reconstructed on a computer workstation to determine the presence of frontal, agger nasi, and intersinus septal cells and frontal sinusitis. We also measured the diameter and area of the frontal isthmus for each sinonasal cavity. We were able to retrieve 106 of 117 images from a surgical database encompassing the previous 2 years. SETTING: Tertiary care academic practice of the senior author. RESULTS: Frontal cells were found in 25.5% of frontal recesses, including 29.6% of sides in the primary group and 21.9% of sides in the revision group. We identified 33.0% of patients as having unilateral or bilateral frontal cells. Type I cells were the most common cell (18.4% of primary sinuses). The presence of frontal sinusitis and the diameter and area of the frontal isthmus were not significantly different for those patients with compared with patients without frontal cells. Intact agger nasi cells were identified in 86.7% of primary sinuses and 53.5% of revision sinuses. There was no increased incidence of frontal sinusitis in patients with persistent agger nasi cells in the revision group. CONCLUSIONS: When we evaluated multiplanar reconstructions, we identified frontal cells in 33.0% of patients overall, which was more common than previously reported. The findings of agger nasi cells indicated that these cells were likely addressed in less than half of previous sinus procedures. However, frontal cells and retained agger nasi cells were not associated with a higher incidence of frontal sinusitis, and there was no association between the size of the frontal isthmus and the presence of frontal sinusitis. Although anatomic variations in the frontal recess are likely to play a role in frontal sinusitis, mucosal inflammatory processes are likely to be a much more important etiologic factor.

Cohort Studies↗
PubMed2004

Inheritance of most X-linked traits is not dominant or recessive, just X-linked.

The existence of X-linked disorders in humans has been recognized for many centuries, based on lessons in religious texts and observations of specific human families (e.g., color blindness or Daltonism). Our modern concepts of Mendelian (including X-linked) inheritance originated just after the turn of the last century. Early concepts of dominance and recessiveness were first used in conjunction with autosomal traits, and then applied to "sex"-linked traits to distinguish X-linked recessive and X-linked dominant inheritance. The former was defined as vertical transmission in which carrier women pass the disorder to affected sons, while the latter was defined as vertical transmission in which daughters of affected males are always affected, transmitting the disorder to offspring of both sexes. However, many X-linked disorders such as adrenoleukodystrophy, fragile X syndrome, and ornithine transcarbamylase deficiency do not fit these rules. We reviewed the literature on 32 X-linked disorders and recorded information on penetrance and expressivity in both sexes. As expected, penetrance and an index of severity of the phenotype (defined in our Methods) were both high in males, while the severity index was low in females. Contrary to standard presentations of X-linked inheritance, penetrance was highly variable in females. Our analysis classified penetrance as high in 28% of the disorders studied, intermediate in 31%, and low in 40%. The high proportion of X-linked disorders with intermediate penetrance is difficult to reconcile with standard definitions of X-linked recessive and dominant inheritance. They do not capture the extraordinarily variable expressivity of X-linked disorders or take into account the multiple mechanisms that can result in disease expression in females, which include cell autonomous expression, skewed X-inactivation, clonal expansion, and somatic mosaicism. We recommend that use of the terms X-linked recessive and dominant be discontinued, and that all such disorders be simply described as following "X-linked" inheritance.

Chromosomes, Human, X↗
PubMed1987

The dorso-lateral recess of the hypothalamic ventricle in neonatal rats.

Light and electron microscopy of the hypothalamic ventricle in neonatal rats demonstrate morphological specializations of the ventricular wall at the level of the premammillary region of the third ventricle. The morphological features are: (1) A ventricular recess that we have called the "hypothalamic dorso-lateral recess" (HDR). (2) The presence of intraventricular capillaries near the dorso-lateral recess. (3) The HDR possessing a specialized ependymal lining; this consists of non-ciliated cells with short microvilli and bleb-like processes. (4) The existence of cerebrospinal fluid-contacting neurons within the HDR. (5) The presence of numerous phagocytic supraependymal cells. The HDR is not found in adult rats. This indicates that the dorso-lateral recess may play a physiological role during development.

Aging↗
PubMed2002

Recessive resistance genes against potyviruses are localized in colinear genomic regions of the tomato ( Lycopersicon spp.) and pepper ( Capsicum spp.) genomes.

Resistance against both Potato virus Y (PVY) and Tobacco etch virus (TEV) was identified in the wild tomato relative Lycopersicon hirsutum PI247087. Analysis of the segregation ratio in F(2)/F(3) and BC(1) interspecific progenies indicated that a single recessive gene, or two very tightly linked recessive loci, are involved in resistance to both potyviruses. This locus was named pot-1. Using amplified fragment length polymorphism markers and a set of L. hirsutum introgression lines, pot-1 was mapped to the short arm of tomato chromosome 3, in the vicinity of the recessive py-1 locus for resistance to corky root rot. Because of the occurrence of phenotypically similar genes in pepper ( Capsicum spp.), the comparative genetics of resistance to potyviruses between tomato and pepper was investigated. Unlike most of the comparative genetic studies on resistance genes, pot-1 was tightly flanked by the same restriction fragment length polymorphism (RFLP) markers than the pvr2/pvr5 locus for resistance to PVY and TEV from pepper. These results may indicate that recessive resistance genes against potyviruses evolve less rapidly than the majority of the dominant genes cloned so far, and consequently may belong to a different family of resistance genes.

Journal Article↗
PubMed2004

Hoffa's recess in the infrapatellar fat pad of the knee on MR imaging.

The infrapatellar fat pad of Hoffa is a structure that is located in the space between the back side of the patellar ligament and the real capsule. It is routinely visualized on magnetic resonance (MR) images of the knee. The purpose of this study was to determine the prevalence and shape of a fluid-like indentation at the inferior posterior margin of the infrapatellar fat pad of the knee (recess) and to look for a relation between the liquid image in the fat pad and joint effusion. Three hundred and fifty consecutive MR imaging examinations of the knee were evaluated for the presence, location, size and shape of a recess in the infrapatellar fat pad and existence of joint effusion. The study population consisted of 145 females and 205 males aged between 5 and 80 years old (mean age 37.5 years). The recess in the infrapatellar fat pad was revealed on MR imaging in 54 of 350 knees (15.43%) and had a variable shape, consisting of 35 linear or ovoid (64.81%), five pipe-shaped (9.26%) and 14 globular (25.92%). Additionally, one ganglion cyst was observed in the infrapatellar fat pad. Globular and pipe-shaped recesses may be confused with cystic infrapatellar fat pad pathologies such as ganglion cyst, meniscal cyst, loose body or nodular synovitis. The existence of an infrapatellar fat pad may not be related to the presence of joint effusion.

Adipose Tissue↗
PubMed2004

Medial rectus pulley posterior fixation: a novel technique to augment recession.

PURPOSE: Medial rectus (MR) pulley posterior fixation, a technique of suturing the pulley to its muscle without scleral sutures, may be as effective as traditional scleral posterior fixation in primary treatment of acquired esotropia (ET) with a high AC/A ratio. This study examines the effectiveness of MR pulley posterior fixation for other variants of ET. METHODS: We retrospectively analyzed the pre- and postoperative alignment of 16 patients: 9 previously operated patients with excess near ET, 4 patients with sensory ET with excess near ET, and 3 patients with large-angle infantile ET. Surgeries involved extraocular muscle recessions and resections in standard doses combined with MR pulley posterior fixation. RESULTS: All 9 reoperated patients were between 0 and 10 prism diopters of distance ET postoperatively. The excess near ET decreased from an average of 12.1 prism diopters preoperatively (range 6-20) to 1.3 prism diopters postoperatively (range, 0-4). Two of the 4 patients with sensory ET were overcorrected at distance (exotropia of 10 and 15 prism diopters, respectively). The excess near ET of these 4 patients decreased from an average of 13.5 prism diopters preoperatively (range, 10-20) to 2.5 prism diopters postoperatively (range, 0-8). In patients with large-angle infantile ET, the addition of pulley posterior fixation resulted in a greater effect than would be predicted for standard MR recessions, particularly at near. Pooling data for all groups, pulley posterior fixation was associated with a highly significant reduction of excess near esotropia postoperatively (P < 0.00001). DISCUSSION: MR pulley posterior fixation augments MR recession with relatively greater effect at near. Surgical dosage for unilateral recessions and resections combined with MR pulley posterior fixation should be reduced in patients with poor potential for postoperative fusion.

Adolescent↗
PubMed2005

Bilateral medial rectus muscle recession for divergence insufficiency pattern esotropia.

PURPOSE: We have identified a group of mostly elderly patients characterized by chronic, slowly progressive esotropia with diplopia at distance. This study was undertaken to analyze the outcomes after bilateral medial rectus muscle recessions in this group of patients with a divergence insufficiency pattern of esotropia. MATERIALS AND METHODS: This is a retrospective consecutive case series of eight patients treated for divergence insufficiency pattern esotropia with bilateral medial rectus muscle recessions. RESULTS: Age at presentation was 44 to 77 years (mean age, 60) and symptoms of diplopia at distance had been present between 3 and 30 years (mean, 12.6). Six patients had been managed with progressively larger amounts of base-out (BO) prism in their distance correction over an average of 12.5 years. Each patient had a manifest esotropia at distance and smaller or no deviation at near. The mean preoperative esodeviation was 20.4 prism diopters (range, 12 to 35) at distance and 5.4 PD (range, 0 to 18) at near with a mean distance-near difference of 15.0 PD. Bilateral medial rectus muscle recession of 3.0 to 4.25 mm (mean 3.5) was performed on each patient. The mean postoperative esodeviation at distance was 3.4 PD (range 0 to 10) and the mean near deviation was 1.8 PD exophoria (range, 8 PD exophoria to 10 PD esotropia) with a mean distance-near difference of 5.1 PD. Three patients still required some prism in their spectacles for the relief of diplopia postoperatively (2 BO, 8 BO, 10 BO). The mean follow-up period was 8.5 months (range, 6 weeks to 46 months). CONCLUSIONS: Bilateral medial rectus muscle recession is an effective treatment for slowly progressive divergence insufficiency pattern esotropia in elderly patients. The reduction in the difference between the distance and near magnitudes of esodeviation afforded by this treatment suggests that a subtle loss of medial rectus muscle elasticity is the etiology.

Adult↗
PubMed2005

Combined adjustable rectus muscle resection--recession for incomitant strabismus.

INTRODUCTION: We sought to report the results of combined adjustable suture resection and recession of a rectus extraocular muscle in a subset of patients who are asymptomatic in the primary position but diplopic in secondary functional gaze positions. METHODS: We undertook a retrospective chart review of 12 patients who underwent a surgical procedure consisting of combined resection and recession of the same rectus extraocular muscle on adjustable suture, the amount of recession being double the amount of resection. RESULTS: The amount of incomitance reduced from a preoperative mean of 11.6 prism diopters (PD) to a postoperative mean of 2.9 PD. All 4 rectus muscles underwent operation No significant change in the primary position alignment occurred. Diplopia was eliminated in 11 of the 12 patients postoperatively. CONCLUSION: The combined adjustable suture resection and recession operation is an effective and easy procedure for treatment of this subset of patients with incomitant strabismus.

Adolescent↗
PubMed2006

Unilateral lateral rectus muscle recession and medial rectus muscle resection with or without advancement for postoperative consecutive exotropia.

PURPOSE: To evaluate the effectiveness of unilateral lateral rectus muscle recession and medial rectus muscle resection with or without advancement in treating postoperative consecutive exotropia. METHODS: We performed a retrospective review on 31 patients with consecutive exotropia who were treated with unilateral lateral rectus muscle recession and medial rectus muscle resection (17 patients) or unilateral lateral rectus muscle recession and medial rectus muscle partial resection combined with advancement (14 patients). All patients had exotropia with a less than 10 prism diopters (PD) distance near-disparity. The characteristics studied before surgery included type of esotropia surgery, detection of amblyopia, presence of an "A" or "V" pattern, dissociated vertical deviation, limitation of adduction, deviation angle measurement, and forced duction testing. Ocular alignment and status of adduction postoperatively at the last follow-up were recorded. RESULTS: Nineteen patients (61.3%) had amblyopia, 17 patients (54.8%) had limitation of adduction, 8 patients (25.8%) had dissociated vertical deviation, and 5 patients (16.1%) had an "A" or "V" pattern. The mean preoperative exodeviation was 47.3 PD. Overall 21 (67.7%) of 31 patients achieved a successful postoperative result (alignment within 10 PD of orthophoria). There was no significant difference in successful alignment in patients treated with unilateral medial rectus muscle resection compared with those treated with unilateral medial rectus muscle partial resection combined with advancement. There was no influence of amblyopia on the result. Twelve (70.6%) of the 17 patients with limited adduction preoperatively showed normalization of adduction postoperatively. CONCLUSIONS: Unilateral lateral rectus muscle recession and medial rectus muscle resection with or without advancement is an effective alternative for treating postoperative consecutive exotropia.

Adolescent↗
PubMed2006

Day-to-day and seasonal variability of physical activity during school recess.

OBJECTIVE: Children's physical activity levels are difficult to establish on a day-to-day or season-to-season basis. Most studies have attempted to measure reliability in habitual settings. This study investigated the variability in children's physical activity during recess. METHODS: Fifteen boys and 19 girls (aged 6 to 11 years) from 2 schools in North West England wore heart rate monitors for 5 consecutive days in summer and winter terms to assess day-to-day and seasonal variability during school recess. Data were collected in 2004. Repeated measures ANOVA's and intraclass correlations (ICC) analysed the day-to-day and seasonal variability in children's moderate-to-vigorous (MVPA) and vigorous physical activity (VPA) data. RESULTS: There were no significant differences in children's MVPA and VPA across days and seasons. ICCs for MVPA across 2 days ranged from 0.75 to 0.85 in summer, and from 0.53 to 0.81 in winter. Three-day MVPA ICCs were 0.83 in summer and 0.71 in winter. CONCLUSIONS: The results revealed no significant variation in children's recess physical activity levels across days and seasons. Whilst children were free to choose their recess activities in school, the results suggested that children were relatively consistent in their choices, limiting physical activity variability.

Child↗
PubMed1996

Primary infratarsal lower eyelid retractor lysis to prevent eyelid retraction after inferior rectus muscle recession.

PURPOSE: To evaluate a procedure to prevent lower eyelid retraction, which may occur after inferior rectus muscle recession surgery as a direct consequence of the intimate anatomic connections between the inferior rectus muscle and lower eyelid retractors. METHODS: We evaluated the technique of primary infratarsal lower eyelid retractor lysis on 12 eyelids of ten patients undergoing inferior rectus muscle recession of 3 mm or more. Indications for surgery included restrictive strabismus related to Graves' ophthalmopathy, orbital blowout fracture, and orbital fibrosis syndrome. RESULTS: For the 12 eyes, inferior rectus muscle recession ranged from 3 to 10 mm (mean, 5.3 mm). Postoperatively there was no significant change in mean lower eyelid position (P > .82), and no patient developed inferior scleral show. CONCLUSION: Primary infratarsal eyelid retractor lysis is an effective technique for preventing lower eyelid retraction after inferior rectus muscle recession strabismus surgery.

Aged↗
PubMed1978

Inferior oblique muscle recession.

Surgical recession of the inferior oblique muscle is simpler to perform if the inferior rectus muscle, rather than either the lateral rectus muscle or the inferior oblique muscle insertion, is used as a landmark. We measured 200 consecutive autopsy eyes to determine the distance from the commonly used 8-mm recession site determined by the Fink technique to the lateral border of the inferior rectus muscle insertion. It was easier to reach this point by measuring 4.0 mm posterior and 4.4 mm superior to the lateral insertion of the inferior rectus muscle, or 2.9 mm superior (on a line parallel to the corneoscleral limbus) and 5.1 mm posterior (on the line perpendicular to the corneoscleral limbus) to the lateral insertion of the inferior rectus muscle. We made anatomical studies to grade the amount of inferior oblique muscle recession and to evaluate the proper placement of the posterior border of the recessed inferior oblique muscle.

Humans↗
PubMed2002

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.

BACKGROUND: Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in a putative adaptor protein called ARH. This recessive disorder, characterised by severe hypercholesterolaemia, xanthomatosis, and premature coronary artery disease, is rare except on the island of Sardinia, Italy. Our aim was to ascertain why ARH is more common on Sardinia than elsewhere. METHODS: We obtained detailed medical histories, did physical examinations, measured concentrations of lipoproteins, and harvested genomic DNA from 28 Sardinians with ARH from 17 unrelated families. We sequenced the coding regions and consensus splice sites of ARH in probands from these families, and from 40 individuals of non-Sardinian origin who had an autosomal recessive form of hypercholesterolaemia of unknown cause. FINDINGS: Two ARH mutations, a frameshift mutation (c432insA) in exon 4 (ARH1) and a nonsense mutation (c65G-->A) in exon 1 (ARH2), were present in all of the 17 unrelated families with ARH. Three of the ARH alleles contained both mutations, as a result of an ancient recombination between ARH1 and ARH2. No regional clustering of the three mutant alleles within Sardinia was apparent. Furthermore, four Italians from the mainland with autosomal recessive hypercholesterolaemia were homozygous for ARH1. INTERPRETATION: The small number, high frequency, and dispersed distribution of ARH mutations on Sardinia are consistent with these mutations being ancient and maintained in the Sardinian population because of geographic isolation.

Adolescent↗
PubMed2003

The agger nasi cell: the key to understanding the anatomy of the frontal recess.

The key to successful surgery in the frontal recess is a complete understanding of the anatomy. The frontal recess is behind the beak of the frontal bone between the lamina papyracea and superior portion of the middle turbinate. It is a hazardous and complex area with a range of anatomical configurations. This article describes the anatomy of the frontal recess as it relates to the agger nasi cell using this cell as the key around which the anatomy is built. The simplest anatomical configuration is explained first and this knowledge is built upon so that the more complex configurations can be better understood. The classification of frontal ethmoidal cells by Kuhn is incorporated into the anatomical description of the various configurations. The implication of each anatomical variation on the surgical approach to the frontal recess is discussed.

Ethmoid Sinus↗
PubMed1987

Medial capsular recession for severe varus deformities.

Medial capsular recession is an effective method of correcting preoperative fixed varus knee deformities at the time of total knee arthroplasty. If the flexion and extension spaces are properly balanced and filled, knee stability is achievable. Sixty-eight knees that had medial capsular recession were followed for at least 2 years after surgery, 19 of them for more than 10 years, with a mean follow-up period of 4.8 years. Of these knees, 73% had less than 5 degrees of postoperative varus/valgus instability with no deterioration during the follow-up period. Attenuation or rupture of the medial flap occurred in only two knees. There was no statistical difference in ultimate range of motion, alignment, or presence of bone-cement radiolucencies between knees with medial recession and those without medial recession.

Aged↗