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At least 757 records · Page 42Linked to original sources
PubMed2002

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.

BACKGROUND: Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene. OBJECTIVES: To search for the presence of parkin gene mutations in Spanish patients with Parkinson's disease (PD) and characterise the phenotype associated with these mutations. METHODS: Thirty seven PD patients with either early onset or autosomal recessive pattern of inheritance were selected for genetic study. RESULTS: Mutations were identified in seven index patients (19%). Homozygous mutations were detected in six patients and a heterozygous mutation in one. The age at onset was lower in patients with mutations than in patients without mutations. Dystonia at onset was present in two patients with parkin gene mutations. The disease began in two patients with postural tremor in the upper limbs mimicking essential tremor. Four patients exhibited a long term response to dopamine agonists. The c.255delA mutation was identified in four unrelated families. This is a frameshift mutation leading to protein truncation. CONCLUSIONS: Parkin gene mutations are present in Spanish patients with early onset and/or an autosomal recessive parkinsonism. The c.255delA is the most frequent mutation found, suggesting a relative high prevalence in the Spanish population.

Adult↗
PubMed1980

Dextroconvexity of the mediastinum in the azygoesophageal recess: a normal CT variant in young adults.

Dextroconvexity of mediastinal contents in the azygo-esophageal recess can occur as a normal variant in young adults with relatively small anteroposterior thoracic dimensions. In older patients with a relatively larger thoracic size, the configuration of the azygo-esophageal recess is more concave. Patient age and thorax size should be considered when interpreting possible azygo-esophageal recess pathology.

Adult↗
PubMed1995

Left pulmonic recess of the pericardium: findings at CT and MR imaging.

PURPOSE: To assess the prevalence and appearance of fluid in the left pulmonic pericardial recess (LPR) on computed tomographic (CT) scans and magnetic resonance (MR) images of patients without pericardial effusion. MATERIALS AND METHODS: Eighty consecutive contrast material-enhanced CT scans and 50 consecutive MR images of the thorax were evaluated for the presence of fluid in the LPR, transverse sinus, and superior pericardial recess. RESULTS: Fluid was identified in the LPR in approximately 25% of patients without pericardial effusion (14 of 62 CT scans, eight of 30 MR images). At MR imaging, the LPR and other recesses appeared as a signal void on spin-echo images but demonstrated high signal intensity on gradient-echo flow-sensitive images. CONCLUSION: Recognition that fluid in the LPR can be a normal finding in patients without pericardial effusion should help avert misdiagnoses of lymphadenopathy.

Diagnosis, Differential↗
PubMed2005

Common autosomal recessive diseases in Oman derived from a hospital-based registry.

OBJECTIVES: The local frequencies of genetic disorders in Oman apart from hemoglobinopathies are largely unknown. The aim of the present study was to evaluate birth prevalence of commonly diagnosed autosomal recessive diseases and to estimate needs and priorities of genetic services. METHODS: Analysis of the years 1993-2002 using a hospital-based registry of genetic diseases was attempted. More than 3,000 records were reviewed. Only patients with definite diagnosis were included in the analysis. Genetically determined diseases occurring less frequently than 1 in 50,000 births are not included. RESULTS: A number of rare autosomal recessive diseases are found to have a prevalence at least 1 in 50,000 livebirths. CONCLUSIONS: The data suggest that genetic diseases are important as major contributors to perinatal and childhood mortality and morbidity. The need for preventive genetic service is essential for the health of the community in Oman. Autosomal recessive diseases were frequently concentrated in specific geographical areas, which can be explained by founder effect and genetic drift. However, the hospital-based registry may present incomplete information. Further prospective studies are needed to provide more detailed data.

Female↗
PubMed2005

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency.

We report the case of a 20-year-old female with disseminated Mycobacterium avium disease involving bones, lungs and brain. She was completely healthy up until the present illness and had been vaccinated with BCG in infancy without complications. Mycobacteriosis progressed in spite of treatment with antituberculous drugs and was controlled only after addition of interferon-gamma subcutaneously. A homozygous hypomorphic I87T mutation was found in the gene encoding the ligand-binding chain of the IFN-gamma receptor (IFNgammaR1). This mutation is the only known recessive hypomorphic lesion in IFNGR1 and had been reported before in only 1 child with curable BCG infection and his sibling with primary tuberculosis. Our report illustrates the clinical heterogeneity of patients sharing exactly the same form of partial recessive IFNgammaR1 deficiency. A diagnosis of partial recessive IFNgammaR1 deficiency should be contemplated in adults with unexplained environmental mycobacterial diseases.

Adult↗
PubMed1982

Computed tomography of the azygo-oesophageal recess. Normal appearances.

Computed tomography of the azygo--oesophageal recess was performed in 85 normal subjects. The recess was convex towards the left or had an approximately straight left wall. Convexity towards the right did not occur. Localized bulges caused by the azygos vein, oesophagus and aorta were frequent. The recess became gradually deeper caudally in patients below 50 years of age. Above that age a marked posterior extension of the heart and a prevertebral position of the aorta often caused a localized shallowing at the level of the inferior pulmonary veins or the ventricles.

Adolescent↗
PubMed2006

The effects of unilateral gastrocsoleus recession.

BACKGROUND: Gastrocsoleus recession is commonly performed to correct equinus contracture of the ankle that may accompany foot and ankle disease in adults. There is concern that mechanical lengthening of the myotendinous unit causes permanent weakness and disability. This retrospective study reviewed the short-term and long-term objective and subjective results of patients who have had this procedure to determine if it is an appropriate adjunct to corrective foot surgery. METHODS: Forty patients who had unilateral gastrocsoleus recession either as an isolated procedure or in conjunction with other surgeries were available for evaluation at an average 25.3 (range 6 to 50) months. Followup evaluation included the AOFAS ankle hindfoot score, subjective questionnaire, and physical examination. Preoperative and postoperative ranges of motion were compared. Mechanical strength testing was done using the contralateral extremity as a control. Maximal strength was measured by peak torque using a Cybex device (CYBEX International, Inc., Ronkonkoma, New York). Fatigue resistance was measured by comparing the maximal number of toe raises between the operative and nonoperative sides. RESULTS: Range of motion improved from -3.5 to 15.3 degrees average dorsiflexion. Subjectively, two patients reported pain at the operative site, and one patient reported moderate weakness. The AOFAS score improved from 62.3 to 79.5. Strength testing of plantarflexion peak torque found the operative extremity to be 74% of the contralateral leg at followup. Peak torque improved from an average of 62.6% at 6 to 18 months to 82.2% after 18 months compared to the contralateral extremity. Fatigue resistance improved from 37.6% to 50.3% at 18 months. Two patients reported paresthesias in the sural nerve distribution. CONCLUSION: Gastrocsoleus recession is an effective procedure to correct equinus contracture either as an isolated procedure or as an adjunct to other foot surgery. While both fatigue resistance and strength decreased initially, both demonstrated improvement over time. Four patients had subjective complaints after the procedure.

Adolescent↗
PubMed2003

Visual performance after congenital nystagmus surgery using extended hang back recession of the four horizontal rectus muscles.

PURPOSE: To evaluate the results of surgical correction of congenital nystagmus based on the use of extensive recessions of the four horizontal rectus muscles. The outcome of this procedure in terms of visual performance of the patients has been analyzed in follow-ups of at least 1 year. METHODS: Surgery was performed on 42 patients. An extended retroequatorial recession of the four horizontal rectus muscles was performed between 13 and 15 mm from the muscle insertion with hang back sutures in every case. Preoperatively, all cases showed either a horizontal pendular (4 cases) or jerk nystagmus (38 cases). RESULTS: After surgery, all cases showed full preservation of ductions in all gaze positions. Torticollis decreased in all cases. Binocular best-corrected vision improved in 19 (45.2%) patients and in the remaining 23 (54.8%) it remained unchanged. Consecutive exotropia was observed postoperatively in 7 patients. A second surgical procedure was performed in 9 cases (21.4%) and a botulinum injection in 3 cases (7%). All cases of diplopia resolved. Patient satisfaction was high in 38 cases (96%). CONCLUSIONS: Extended recession of horizontal rectus muscles using hang back sutures offers a good option for the surgical correction of sensorial and neuromuscular nystagmus, providing improvement in binocular best-corrected vision in 45% of the patients (21.4% more than 0.2 logMar units), a high satisfaction rate, and few associated complications. In patients with low vision this can be considered a success that may improve quality of life.

Adolescent↗
PubMedDate not supplied

The alteration of extraocular muscle arc after hang-back recession in animal experiments.

We did an animal experimental study to investigate the extraocular muscle arc after hang-back recession on horizontal rectus muscles of five dogs. Two tiny sutures using 8-0 nylon were made on the sclera 8-10 mm posterior to the muscle insertion along the upper and lower margins of the right lateral rectus and left medial rectus to compare the altered muscle arc with the original muscle arc. Hang-back recession was performed on the horizontal rectus muscles and three months later we investigated the change in the muscle arc. Four of the 10 muscles operated showed no change, four were displaced upward (mean +/- SD; 1.00 +/- 0.16 mm) and two were displaced downward (1.00 +/- 0.00 mm). The average displacement was 0.60 +/- 0.52 mm. The alteration of muscle arc after hang-back recession thus seems insignificant.

Animals↗
PubMedDate not supplied

Bilateral medial rectus recession in convergence excess esotropia, with and without distance orthophoria.

PURPOSE: To evaluate the effectivity and safety of bilateral medial rectus recession for the correction of acquired convergence excess esotropia, with and without distance orthophoria. METHODS: Thirty-five pediatric patients with acquired convergence excess esotropia were operated with bilateral medial rectus recessions based on the near angle measured through the distance correction. Preoperatively, in 26 patients, full hypermetropic correction did not fully correct the distance angle; these patients were operated for the residual angle for distance and near. In nine patients full hypermetropic correction produced distance orthophoria and these cases also had near orthophoria through a near add; these patients could have used bifocals, but surgery was chosen instead. RESULTS: Postoperatively, 19 of the 26 patients with distance esotropia (73%) and 6 of the 9 with distance orthophoria (66.6%) were successfully aligned. Consecutive exotropia developed in two patients (7.6%) in the distance esotropia group and one (11.1%) in the distance orthophoria group. CONCLUSIONS: These results suggest that bilateral recession of the medial recti based on the near deviation is effective in eliminating the near angle in convergence excess esotropia. In patients with distance orthophoria this operation can be used as an initial treatment instead of bifocals. Although the risk of consecutive exotropia was low in this series, a larger number of patients would determine its actual rate more accurately.

Child↗
PubMed2003

Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.

The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.

Adolescent↗
PubMed2006

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

BACKGROUND: Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and spasticity, due to a permanent lack of myelin deposition in the brain. Mutations in the GJA12 gene, encoding connexin 47 (Cx47), were recently reported in five children with autosomal recessive PMLD. OBJECTIVES: To evaluate the impact of mutations in the GJA12 gene in, and define the clinical and neuroimaging features of, autosomal recessive PMLD. RESULTS: The authors screened for GJA12 mutations in 10 additional PMLD families originating from Italy, Pakistan, and Saudi Arabia. Three novel homozygous GJA12 mutations were identified in 12 mutant cases distributed in 3 of 10 families. The mutations segregated with the disease according to an autosomal recessive trait and included one missense (G236S) and two nonsense (L281fs285X and P131fs144X) changes. CONCLUSIONS: The identification of homozygous mutations predicting the synthesis of aberrant and truncated polypeptides, and their tight segregation with the disease in very large families, clearly demonstrate that the loss of Cx47 function is the cause of the disease. The phenotype of GJA12-related Pelizaeus-Merzbacher-like disease is fairly homogeneous and similar to that of Pelizaeus-Merzbacher disease. However, slower progression of symptoms, greater preservation of cognitive functions, and partial myelination of corticospinal tracts at MRI were distinctive features, which could help in the differential diagnosis.

Adolescent↗
PubMed2006

The endoscopic endonasal approach to the lateral recess of the sphenoid sinus via the pterygopalatine fossa: comparison of endoscopic and radiological landmarks.

OBJECTIVE: The endoscopic endonasal approach offers the opportunity to reach the pterygopalatine fossa, the lateral recess of the sphenoid sinus, and other areas of the cranial base through a minimally invasive approach. This study compares the anatomy of these areas when observed through an endoscopic endonasal view with the anatomy of the same regions as they appear in computed tomographic scans. The aim was to identify and correlate the corresponding anatomic structures, providing the surgeons with anatomic landmarks to guide them when operating in these areas through an endoscopic endonasal approach. METHODS: An anatomic dissection of six fixed cadaver heads was performed by an endoscopic endonasal approach. A step-by-step comparison of endoscopic and radiological images was made to identify the landmarks of the surgical field. RESULTS: The step-by-step comparison of endoscopic and radiological images acquired during the endoscopic endonasal approach to the lateral recess of the sphenoid sinus via the pterygopalatine fossa allowed the identification of all the relevant anatomic landmarks of the procedure. CONCLUSION: The endoscopic endonasal approach via the pterygopalatine fossa offers direct, minimally invasive access to the lateral recess of the sphenoid sinus, which can be monitored in each phase through consistent radiological imagery.

Cadaver↗
PubMed2003

Biochemical characterization of DNA damage checkpoint complexes: clamp loader and clamp complexes with specificity for 5' recessed DNA.

The cellular pathways involved in maintaining genome stability halt cell cycle progression in the presence of DNA damage or incomplete replication. Proteins required for this pathway include Rad17, Rad9, Hus1, Rad1, and Rfc-2, Rfc-3, Rfc-4, and Rfc-5. The heteropentamer replication factor C (RFC) loads during DNA replication the homotrimer proliferating cell nuclear antigen (PCNA) polymerase clamp onto DNA. Sequence similarities suggest the biochemical functions of an RSR (Rad17-Rfc2-Rfc3-Rfc4-Rfc5) complex and an RHR heterotrimer (Rad1-Hus1-Rad9) may be similar to that of RFC and PCNA, respectively. RSR purified from human cells loads RHR onto DNA in an ATP-, replication protein A-, and DNA structure-dependent manner. Interestingly, RSR and RFC differed in their ATPase activities and displayed distinct DNA substrate specificities. RSR preferred DNA substrates possessing 5' recessed ends whereas RFC preferred 3' recessed end DNA substrates. Characterization of the biochemical loading reaction executed by the checkpoint clamp loader RSR suggests new insights into the mechanisms underlying recognition of damage-induced DNA structures and signaling to cell cycle controls. The observation that RSR loads its clamp onto a 5' recessed end supports a potential role for RHR and RSR in diverse DNA metabolism, such as stalled DNA replication forks, recombination-linked DNA repair, and telomere maintenance, among other processes.

Adenosine Triphosphate↗
PubMed1978

Treatment of localized gingival recessions. Part I. Lateral sliding flap.

This study was undertaken to evaluate biometrically the changes that occur on the recipient as well as on the donor tooth with regard to gingival recession, sulcus depth and width of keratinized gingiva after performing a lateral sliding flap in the treatment of localized denuded roots. Fourteen teeth with gingival recession were treated using a lateral sliding flap. Measurements were recorded preoperatively and 1, 3 and 6 months after surgery. A mean gain of 2.69 mm of soft tissue coverage over the denuded root was found 6 months postoperatively which represents 69% of coverage. The mean gain in width of keratinized gingiva averaged 3.15 mm. On the donor tooth an average gingival recession of 1.1o mm was found after 6 months, and the width of keratinized gingiva decreased an average of 1.25 mm. Results remained stable after 30 days postsurgery.

Adult↗
PubMed1985

Prenatal care and pregnancy outcomes during the recession: the Washington State experience.

To determine whether changes in prenatal care utilization and adverse pregnancy outcomes occurred among poor residents of Washington State during the recent recession, we examined all births occurring from 1980 to 1983 to women in the poorest census tracts of the three major metropolitan counties in Washington State (N = 15,735). A comparison sample consisted of all births occurring in the highest income census tracts (N = 16,295). Because the impact of the recession was hypothesized to be greatest in 1982, rates in 1982 were compared with rates in 1980. The proportion of births receiving late or no prenatal care increased in both the low-income tracts (6.2 per cent to 8.2 per cent) and the high-income tracts (1.6 per cent to 2.3 per cent). The proportion of low birthweight infants increased only in the low-income tracts (6.3 per cent to 7.4 per cent). The prevalence of maternal anemia (hematocrit less than 30) also increased only in the low-income tracts (0.7 per cent to 1.7 per cent). While we were unable to ascertain the financial status of the individuals who suffered the adverse outcomes, the findings for the low-income census tracts are consistent with the hypothesis that an increase in adverse pregnancy outcomes occurred among the poor in Washington State during the recent recession.

Adolescent↗
PubMed2000

The "High-Riding" superior pericardial recess: CT findings.

OBJECTIVE. We recently observed patients in whom the superior pericardial recess extended cephalad ("high-riding") into the right paratracheal region. In these patients, differentiation from mediastinal lymphadenopathy or mass was difficult. The purpose of this study was to assess the prevalence and CT features of the high-riding superior pericardial recess. CONCLUSION. Narrow-collimation CT with multiplanar reformations was useful for confidently diagnosing a high-riding superior pericardial recess and for distinguishing it from pathologic lesions.

Aged↗
PubMed2002

Influence of vestibulovaginal stenosis, pelvic bladder, and recessed vulva on response to treatment for clinical signs of lower urinary tract disease in dogs: 38 cases (1990-1999).

OBJECTIVE: To determine influence of vestibulovaginal stenosis, pelvic bladder, and recessed vulva on response to treatment for clinical signs of lower urinary tract disease in dogs. DESIGN: Retrospective study. ANIMALS: 38 spayed female dogs. PROCEDURE: Medical records and client follow-up were reviewed for dogs evaluated via excretory urography because of clinical signs of lower urinary tract disease. Clinical signs, results of radiography, and response to surgical or medical treatment were analyzed. RESULTS: Clinical signs included urinary tract infection (n = 24), urinary incontinence (20), vaginitis (11), pollakiuria or stranguria (10), and perivulvar dermatitis (4). Vaginocystourethrographic findings included vestibulovaginal stenosis (n = 28), pelvic bladder (17), and ureteritis or pyelonephritis (4). Ten dogs had a vestibulovaginal ratio of < 0.20 (severe stenosis), 9 dogs had a ratio of 0.20 to 0.25 (moderate stenosis), 9 dogs had a ratio of 0.26 to 0.35 (mild stenosis), and 10 dogs had a ratio of > 0.35 (anatomically normal). Lower urinary tract infection, incontinence, and pelvic bladder were not associated with response to treatment for recessed vulva. Vestibulovaginal stenosis with a ratio < 0.20 was significantly associated negatively with response to treatment. Dogs without severe vestibulovaginal stenosis that received vulvoplasty for a recessed vulva responded well to treatment. CONCLUSIONS AND CLINICAL RELEVANCE: Vestibulovaginal stenosis is likely an important factor in dogs with vestibulovaginal ratio < 0.20. Vaginectomy or resection and anastomosis should be considered in dogs with severe vestibulovaginal stenosis and signs of lower urinary tract disease.

Anastomosis, Surgical↗