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PubMed2001

Nerve root compression by a gas-containing cyst associated with stenotic lateral recess. Case report and review of the literature.

The authors describe a case in which a gas-containing cyst was associated with a stenotic lateral recess at the same level in the absence of any disc material. A young man presented a one-month history of sciatica caused by compression of the left L5 nerve root. The neuroradiological investigations performed (CT, MRI) showed the presence of a gas-containing cyst associated with a stenotic lateral recess. The clinical, etiopathological characteristics and treatment of this condition are discussed and the pertinent literature is reviewed. Decompression of the nerve root was obtained by surgery. The herniated gas collected within a capsule (gas-containing cyst) can act as a mass and produce symptoms, much like a herniated nucleus pulposus. The antalgic stance adopted by the patient with marked flexion of the spine helps to distribute the pressure exerted by the cyst over a wider area (Pascal's law I). The appropriate procedure to relieve the radicular compression caused by gas-containing cyst seemed to be the surgical treatment.

Cysts↗
PubMed2002

Recession and measured, graded anterior transposition of the inferior oblique muscles for V-pattern strabismus: outcome of 44 procedures in 22 typical patients.

PURPOSE: This study aimed to evaluate the efficacy of recession and graded anterior transposition of the inferior oblique (IO) muscle to correct or to reduce V-pattern strabismus and associated IO overaction. METHODS: The technique used was that proposed by Wright, using the temporal border and the insertion of the inferior rectus as the reference points to locate the new insertion. In a retrospective study, 51 patient histories were analyzed and from this group, 22 patients were selected as most typical examples. Patients with hypertropias greater than 6 prism diopters (PD), a dissociated vertical deviation (DVD) greater than 8 PD or decompensated DVD were excluded. RESULTS: A total of 44 eye surgeries on 22 patients were analyzed. We observed favorable results ("statistically significant") concerning the reduction of the IO overaction or V incomitance. In 45.5% (20 eyes) the IO function was normalized, in 15.9% (7 eyes) there was a reduction to -1 (underaction) and in 34.1% (15 eyes) there was a reduction, but there still remained a +1 overaction. In 77.3% of the patients there was a "satisfactory" outcome of the V pattern, defined as a residual incomitance less than 10 PD. CONCLUSION: In this group of patients with V-pattern strabismus and IO overaction, the recession and measured, graded anterior transposition based on Wright's technique showed satisfactory results ("statistically significant") in correcting the V incomitance and normalizing or reducing the IO overaction.

Adolescent↗
PubMed1986

Economic recession and international labour migration in the Arab Gulf.

"The article examines the broad effects of economic recession on immigrant labour flows into the Arab Gulf states. Attention is focussed on Kuwait which has experienced a significant reduction in new expatriate labour inflows since 1983. At the same time, however, the increasing rate of work permit renewals and of job transfers within the labour market suggest a growing stability of the expatriate workforce. As a result it is concluded that the economic recession may not result in a significant draw-down on expatriate labour stocks."

Asia↗
PubMed2003

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

PURPOSE: To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations. METHODS: All six exons comprising the open reading frame of the ELOVL4 gene were evaluated by single-strand conformation analysis, direct nucleotide sequencing, or both methods. RESULTS: No pathogenic mutations were found among 84 patients with autosomal recessive retinitis pigmentosa or among 51 patients with Leber congenital amaurosis (congenital retinal blindness). CONCLUSIONS: These data support the conclusion that recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene.

Blindness↗
PubMed1992

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location. The disorder is characterized by total absence of color discrimination because retinal cone photoreceptors do not develop; systemic features do not occur. A 20-year-old white female with rod monochromacy presented with short stature (less than 5th percentile), mild developmental delay, premature puberty, small hands and feet (length less than 5th percentile), minimal dysmorphism, and a reproductive history of three consecutive first-trimester miscarriages. Cytogenetic analysis showed 45,XX,rob(14;14) in all 30 cells examined. Southern analysis of DNA from the patient and her phenotypically normal mother and two brothers (her father is deceased) ascertained the parental origin of the 14;14 Robertsonian translocation. Analysis of RFLPs associated with nine VNTR probes and two dinucleotide repeat polymorphisms from chromosome 14 demonstrated that the patient had inherited two copies of a single allele, each of which was maternally derived. A fully informative RFLP analysis of three probes from chromosome 14 enabled reconstruction of the paternal haplotype and showed the lack of any paternal contribution to the subject. These data are consistent with maternal isodisomy for all portions of chromosome 14 tested by these markers. This finding suggests that rod monochromacy maps to chromosome 14, and it emphasizes the importance of uniparental isodisomy to provide a putative chromosomal assignment of a gene for a rare autosomal recessive disorder.

Chromosome Mapping↗
PubMed1992

[Exposure of the facial recess through the ear canal. Value in posterosuperior retraction pockets (initial results)].

19 patients had surgery for progressive [17] and/or symptomatic [2] posterior attic retraction pockets involving the facial recess. Exposition of the suprapyramidal region was obtained after endaural incision by thinning the posterior wall of the ear canal and removing the posterior-superior portion of the tympanic sulcus. This technique is less complicated than intact canal wall tympanoplasty with mastoidectomy. Yet gives similar functional results. After a mean follow-up of 20.3 months, we have observed no residual cholesteatoma and no recurrent retraction pockets. Unlike posterior tympanoplasty, this technique makes it possible to meticulously remove the osteitic bone invariably found in the facial recess when there is infection of the retraction pocket.

Adolescent↗
PubMed2003

Functional and expression analyses of mgl-1, a mouse orthologue of lethal giant larvae recessive oncogene.

We recently isolated a few mammalian homologue of Drosophila lethal giant larvae (lgl) recessive oncogene, suggesting that there is functional conservation among proteins of this family. The comparison of amino acid sequence for mgl-1 with other lgl family members using the clustal method showed that they are highly homologous. Therefore, we investigated the biological function of mgl-1, a mouse orthologue of lgl, in the absence of Saccharomyces cerevisiae Sop1 and Sop2, the yeast homologues of the lgl recessive oncogene. Functional analysis showed that the expression of mgl-1 cDNA partially restored salt tolerance in yeast, indicating the evolutionary conservation of lgl family members. Since the developmental expression profile of mgl-1 has not been elucidated, the temporal and spatial expression patterns of mouse mgl-1 during early embryonic development were analyzed. The temporal expression analysis revealed that mgl-1 is expressed throughout embryonic development from days E4.5 to E18.5 with the strong expression at E10.5. The analysis of spatial expression showed that mgl-1 mRNA is detected in CNS, craniofacial region, eyes, limbs, and the gut.

Amino Acid Sequence↗
PubMedDate not supplied

Congenital cutis laxa syndrome: type II autosomal recessive inheritance.

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the siblings also had similar features and wrinkled skin. Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis, long filtrum, pectus excavatus, large fontanelles, prominent low-set ears and umbilical hernia. These findings and skin biopsy were consistent with cutis laxa syndrome. In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifestations of type II autosomal recessive cutis laxa.

Consanguinity↗
PubMed2003

[Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].

Autosomal recessive non-syndromic hearing loss is the most common form of inherited childhood deafness. Identification of the responsible gene in this type of hearing loss presents difficulties because of marked genetic heterogenicity and limited clinical presentation. A two-year-old girl was referred to our clinic because of congenital hearing loss. Family history showed that her brother and six relatives of her parents were also affected by unilateral or bilateral hearing loss. There was no consanguinity between the parents, though they were from close villages. Audiometric studies revealed severe bilateral sensorineural hearing loss. Molecular analysis of the index patient documented that autosomal recessive non-syndromic hearing loss resulted from the homozygous 35delG mutation in the connexin 26 gene.

Audiometry↗
PubMed2004

Isotretinoin treatment inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration.

Recessive Stargardt's macular degeneration is an inherited blinding disease of children caused by mutations in the ABCR gene. The primary pathologic defect in Stargardt's discase is accumulation of toxic lipofuscin pigments such as N-retinylidene-N-retinylethanolamine (A2E) in cells of the retinal pigment epithelium (RPE). This accumulation appears to be responsible for the photoreceptor death and severe visual loss in Stargardt's patients. Here, we tested a novel therapeutic strategy to inhibit lipofuscin accumulation in a mouse model of recessive Stargardt's disease. Isotretinoin (Accutane) has been shown to slow the synthesis of 11-cis-retinaldehyde (11cRAL) and regeneration of rhodopsin by inhibiting 11-cis-retinol dehydrogenase (11cRDH) in the visual cycle. Light activation of rhodopsin results in its release of all-trans-retinaldehyde (atRAL), which constitutes the first reactant in A2E biosynthesis. Accordingly, we tested the effects of isotretinoin on lipofuscin accumulation in abcr-/- knockout mice. Isotretinoin blocked the formation of A2E biochemically and the accumulation of lipofuscin pigments by electron microscopy. We observed no significant visual loss in treated abcr-/- mice by electroretinography. Isotretinoin also blocked the slower, age-dependent accumulation of lipofuscin in wild-type mice. These results corroborate the proposed mechanism of A2E biogenesis. Further, they suggest that treatment with isotretinoin may inhibit lipofuscin accumulation and thus delay the onset of visual loss in Stargardt's patients. Finally, the results suggest that isotretinoin may be an effective treatment for other forms of retinal or macular degeneration associated with lipofuscin accumulation.

Animals↗
PubMed2004

[Successful treatment of Norwegian scabies with ivermectin in a patient with recessive dystrophic epidermolysis bullosa].

A 14 year-old female born from consanguineous healthy parents was admitted to our institute for the presence of a generalized bullous eruption started at birth. The bullae were asymmetrically distributed all over the cutaneous surface and, over time, evolved into erosions that resolved with scarring areas. On the basis of the clinical picture and the ultrastructural and antigenic studies, a diagnosis of recessive dystrophic epidermolysis bullosa was made. In the following months, the patient began to complain a severe pruritus and the bullae and erosions were accompanied with diffuse erythematous patches and plaques covered by thick scale-crusts situated mostly on the arms. Microscopic examination of the scales revealed the presence of many mites and ova. Since the conventional topical therapies for scabies were uneffective, the patient was treated with a single dose (200 mcg/hg) of ivermectin. Although there was an initial improvement, scabies recurred within 2 months from discontinuation of the therapy. Finally, a further single administration of ivermectin at the same dosage led to the complete and permanent resolution of scabies. The association of recessive dystrophic epidermolysis bullosa and norwegian scabies has been already reported in literature. The case presented suggests that ivermectin represents an effective drug for severe forms of scabies occurring in patients affected by other dermatoses that prevent the use of topical treatments.

Adolescent↗
PubMedDate not supplied

[Saving insertional recessive lethal mutants of Arabidopsis thaliana].

A group of 13 recessive lethal mutants was selected on the basis of the collection of Arabidopsis thaliana transgenic plants with insertions of T-DNA vector plasmid pLD3 or pPCVRN4, which was produced by agrobacterial transformation of germinating seeds. The use of media containing exogenous hormones made it possible to compensate the lethal effect, identify phenotypes, and characterize six lines of recessive lethal germlings using genetic and molecular-genetic methods.

Arabidopsis↗
PubMed2001

[Lumbar lateral recess stenosis. Clinical symptoms, diagnostic modalities and surgical management].

BACKGROUND: In spite of its importance for lumbar radicular syndroms only a few reports about lumbar lateral recess stenosis exist in literature. Most important clinical symptom is radicular pain, which may be exercise-dependent. Confirmation of diagnosis and differentiation from disc herniation requires imaging like CT, MRI or post-myelo-CT. Surgical treatment options include selective decompression techniques like foraminotomy, medial facettectomy and undercutting as well as hemilaminectomy, laminotomy and wide laminectomy or fusion. METHOD: We treated 35 patients with selective decompression techniques. RESULTS: In the follow-up 5 up to 18 months after surgery 25 patients for themselves described the results as good or excellent. Therefore, individually tailored selective microsurgical decompression is an appropriate and successful treatment strategy for lumbar lateral recess stenosis, if conservative treatment fails.

Adult↗
PubMedDate not supplied

[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].

INTRODUCTION AND DEVELOPMENT: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs. They use to have early onset before the age of 20. Based on pathogenic mechanisms five main types may be distinguished: congenital (developmental disorder), mitochondrial ataxias, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, and degenerative ataxia with unknown pathogenesis. The most frequent in Caucasian population are Friedreich ataxia and ataxia-telangiectasia. Other forms are much less common, and include abetaliproteinemia, ataxia with vitamin E deficiency (AVED), ataxia with oculomotor apraxia types 1 (AOA1) and 2 (AOA2), early onset cerebellar ataxia with retained reflexes, Charlevoix-Saguenay spastic ataxia, and Joubert syndrome. The prevalence of ARCA has been estimated to 7 in 100,000 inhabitants. These diseases are due to mutations in specific genes, some of which and its encoded proteins have been identified, such as FRDA (frataxin) in Friedreich ataxia, APTX (aprataxin) in AOA1, alphaTTP (alpha-tocopherol transfer protein) in AVED, and STX (senataxin) in AOA2. Due to autosomal recessive inheritance, previous familial history of affected individuals unlikely. CONCLUSIONS: Most of these cerebellar ataxias have no specific treatment with exception of the ataxia associated with deficiency coenzyme Q10 and abetalipoproteinemia. Clinical diagnosis must be confirmed by ancillary tests such as neuroimaging (magnetic resonance, scanning), electrophysiological examination, and mutation analysis when the causative gene has been identified. Correct clinical and genetic diagnosis is important for appropriate prognosis and genetic counseling and, in some instances, pharmacological treatment.

Age of Onset↗
PubMedDate not supplied

Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey.

Mutations in the GJB2 gene have been shown to be the major cause of autosomal recessively inherited, prelingual, non-syndromic hearing loss. 35delG was found to be the most frequent mutation among Caucasians. In this study, we performed haplotype analysis of two large families with autosomal recessive non-syndromic hearing loss (totally 33 affected, 37 unaffected) from Trabzon (a city from the Eastern Black Sea region) by using polymorphic markers close to the 35delG mutation region, and identified a common haplotype, "2-6-4". The frequency of the mutant chromosomes having the 2-6-4 haplotype was compared between the Eastern Black Sea region and the other regions of Turkey and the difference was found to be significant (chi squared = 5.13/df = 1/p = 0.023). Also, when the frequency of mutant and wild type chromosomes having the 2-6-4 haplotype was compared in the Eastern Black Sea region, a statistically significant difference was observed in the mutant chromosomes (chi squared = 7.46/df = 1/p < or = 0.01). The results of this study demonstrate that the ancestral haplotype of the chromosomes bearing 35delG mutation in the Eastern Black Sea region is "2-6-4".

Connexin 26↗
PubMed2005

[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].

OBJECTIVE: To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP). METHODS: Mutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families. RESULTS: No pathogenetic mutations in the DJ1 gene were detected in this group. Six intronic DJ1 polymorphisms (IVS1-15T-->C, IVS4+30T-->G, IVS4+45G-->A, IVS4+46G-->A, IVS5+31G-->A, g.168-185del) were found. Three of them (IVS1-15T-->C, IVS4+45G-->A, IVS4+46G-->A) were not reported previously. CONCLUSION: DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.

Adolescent↗
PubMed1991

[Value of pulp recession in inveterate hook fingers. Techniques/indications].

The aim of this operation is to preserve the sensitivity whenever when a finger has to be amputated. We have reviewed 9 patients operated according to this technique, out of 14 patients for whom an amputation or a shortening arthrodesis was discussed. The results of pulp recession were most encouraging. The incision were located on both sides of the finger and distant from the ungueal matrix. The dorsal skin was elevated in the sub-periosteal plane. Resection of the necessary amount of 2nd phalanx to obtain an extended finger was performed. An osteosynthesis with pins is preferred for a duration of 6 weeks. This operation can be performed for very stiff finger, hooked fingers or dystrophic fingers with a good pulp. In extreme cases of shortening, the nail with its bed ar sacrificed, and the entire pulp is used to cover the distal stump. This principal of pulp recession has been used in two other cases in emergency surgery. The postoperative was marked by finger swelling and some pain of the distal sutured skin. Overall the results were satisfactory and patients were very satisfied to keep their finger, which would otherwise have been doomed.

Adolescent↗
PubMedDate not supplied

[Recessive dystrophic epidermolysis bullosa. Oral manifestations apropos of 3 cases].

Epidermolysis Bullosa (EB) constitutes a group of genetic disorders characterized by bullae and vesicle formation on the skin and mucosa. Three cases of recessive EB that may be clinically classified as recessive dystrophic EB (RDEB) are described. In two cases dental treatment consisted of extractions and restorative therapy under local anesthesia. In all three cases individual home and professional preventive programs were established and no new decays were observed during the next years. Dental management under local anesthesia is emphasized by the authors.

Child↗