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PubMed1988

Recession and anterior transposition of the inferior oblique for treatment of superior oblique palsy.

We evaluated the effectiveness of inferior oblique recession with anterior transposition in treating 12 patients with superior oblique palsy. Mean decreases of hypertropia measured 17 prism diopters in the primary position, 24 prism diopters in adduction, and 21 prism diopters on ipsilateral head tilt. Head tilt and diplopia were uniformly eliminated. No surgical complications were encountered. Postoperative deviations were mild and infrequent. Only one patient demonstrated postoperative underaction of the recessed inferior oblique.

Adolescent↗
PubMed1995

Recessive oncogenes: current status.

Cell growth is under the control of a variety of positive and negative signals. An imbalance of such signals results in deregulation of cell behavior. Recessive oncogenes or tumor suppressor genes, opposite to dominant oncogenes, encode important cellular proteins which could function as negative regulators of the cell cycle, i.e., cell cycle brakes. Inactivation of recessive oncogenes, by allelic deletion, loss of expression, mutation, or functional inactivation by interacting with oncogene products of DNA tumor viruses or with amplified cellular binding proteins, will lead to uncontrolled cell growth or tumor formation. Besides the classic suppressor genes such as the p53 and RB, a growing number of novel tumor suppressor genes have been identified in recent years. While some tumor suppressor genes have been found to be important for the development of a large number of human malignancies (e.g., the p53 gene), others are more tumor type-specific (e.g., the NF-1 gene). Many human cancer types showed abnormalities of multiple tumor suppressor genes, offering strong support to the concept that tumorigenesis and progression result from an accumulation of multiple genetic alterations. In this review, we will begin with an overview (gene, transcript, protein and mechanisms of action) of the tumor suppressor genes (the RB, p53, DCC, APC, MCC, WT1, VHL, MST1, and BRCA1 genes) identified to date and then discuss the specific involvement of tumor suppressor genes in human malignancies including prostate cancer. Various chromosomal regions which potentially may contain tumor suppressor genes also will be reviewed.

Journal Article↗
PubMed2006

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most frequent form of prelingual hereditary hearing loss in humans. Between 75 and 80% of all nonsyndromic deafness is inherited in an autosomal recessive pattern. Using linkage analysis, we have mapped a novel gene responsible for this form of nonsyndromic hearing impairment, DFNB65, in a consanguineous family from the Azad Jammu and Kashmir regions, which border Pakistan and India. A maximum multipoint LOD score of 3.3 was obtained at marker D20S840. The three-unit support interval is contained between markers D20S902 and D20S430, while the region of homozygosity is flanked by markers D20S480 and D20S430. The novel locus maps to a 10.5-cM region on chromosome 20q13.2-q13.32 and corresponds to a physical map distance of 4.3 Mb. DFNB65 represents the first ARNSHI locus to map to chromosome 20.

Adolescent↗
PubMed2001

Attempted suicide rates and trends during a period of severe economic recession in Helsinki, 1989-1997.

BACKGROUND: This study investigated attempted suicide trends during a deep economic recession in the 1990s in a well-defined urban catchment area. METHODS: The data covered every suicide attempt treated in health care during sample periods in 1989-1997 in Helsinki, Finland. Annual rates were estimated, 3-year moving averages for trends calculated, and significances tested. RESULTS: The overall attempted suicide rate remained stable over the 9-year study period. Against expectations, male rates decreased significantly (P < 0.01), especially among those aged 15-34. There was a convergence of female and male rates, although male rates remained higher. The proportion of poisonings as method increased (P < 0.01). CONCLUSIONS: Despite the deep economic recession, with rapidly rising unemployment attempted suicide rates remained unexpectedly stable. The total attempted suicide rate did not increase as might have been anticipated, and the male rate even decreased.

Adolescent↗
PubMed2003

Recessive omodysplasia: five new cases and review of the literature.

BACKGROUND: Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. OBJECTIVE: The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age. MATERIALS AND METHODS: Five new patients, including two sibs, with autosomal recessive omodysplasia are presented. RESULTS: Clinical features are rhizomelic dwarfism with limited extension of elbows and knees and a distinct face with a short nose, depressed nasal bridge, long philtrum, midline haemangiomas in infants and cryptorchidism in males. Radiological findings are distal hypoplasia of the short humerus and femur with characteristic radial dislocation and radioulnar diastasis. CONCLUSIONS: Based on a review of these and 16 previously reported patients, the regressive nature of the humerofemoral changes and the obvious male predominance are stressed. Phenotypic similarities with the atelosteogenesis group of disorders and with diastrophic dysplasia suggest common pathogenetic mechanisms.

Abnormalities, Multiple↗
PubMed1999

Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family.

Four cases of acrogeria in one large family with multiple consanguineous marriages are reported. Inheritance is autosomal recessive. Evaluation of six generations of this family also showed six individuals with congenital blindness; this pedigree suggests autosomal recessive inheritance also for this disorder. Association of the two conditions was not seen in living members. The initial presentation in the patients with acrogeria was failure of growth during the first year of life, accompanied by characteristic facial appearance and cutaneous atrophy of the face and extremities. The radiologic features of these patients were acro-osteolysis, wide sutures and fontanelles, wormian bones, mandibular hypoplasia and avascular necrosis of the femoral heads. Other features were osteolysis of the clavicles, soft tissue calcification, osteoporosis and coxa valga, which have not been described in previous reported cases.

Abnormalities, Multiple↗
PubMed2000

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Within a group of 76 sporadic/autosomal recessive limb girdle muscular dystrophy (LGMD) patients we tried to identify those with LGMD type 2C-E. Muscle biopsy specimens of 40 index patients, who had 22 affected sibs, were analyzed immuno-histochemically for the presence of three subunits: alpha-, beta-, and gamma-sarcoglycans. Abnormal sarcoglycan expression was established in eight patients, with six affected sibs. In one patient gamma-sarcoglycan was absent, and both alpha- and beta-sarcoglycans were reduced. In the remaining seven patients gamma-sarcoglycan was (slightly) reduced, and alpha- and beta-sarcoglycans were absent or reduced. By DNA sequencing mutations were detected in one of the three sarcoglycan genes in all eight cases. Three patients had mutations in the alpha-, three in the beta-, and two in the gamma-sarcoglycan gene. The patients with sarcoglycanopathy comprised the more severely affected cases (P=0.04). In conclusion, sarcoglycanopathy was identified in 23 % (14/62) of the autosomal recessive LGMD patients.

Adolescent↗
PubMed2006

Recession-resection combined with intraoperative botulinum toxin A chemodenervation for exotropia following subtotal ruptured of medial rectus muscle.

BACKGROUND: Ruptured extraocular muscle loses its function and shows severe restriction of eye movement even after muscle-to-muscle anastomosis or muscle transposition surgery. We present the case of a patient who developed a large exotropia after near-total rupture of the medial rectus muscle following a blowout fracture. METHODS: Case report. RESULTS: A 12-year-old girl presented at our clinic with 45 prism diopters' exotropia after a blunt trauma. A forced duction test was unrestricted, and orbital computed tomography showed a medial orbital wall fracture and an impinged medial rectus muscle. Upon surgical exploration, an almost totally ruptured medial rectus muscle was found. The median margin of the ruptured muscle was 6.0 mm from its insertion, and the distal end that we could examine was 15.0 mm from the limbus. Recession-resection surgery combined with intraoperative botulinum toxin A chemodenervation to the ipsilateral lateral rectus muscle achieved a good primary alignment and binocular single visual field, even at a 9-month follow-up. CONCLUSIONS: Recession-resection surgery augmented by intraoperative botulinum toxin A chemodenervation to the ipsilateral rectus muscle appears to be highly effective in the treatment of a large exotropia produced by subtotal rectus muscle rupture following orbital wall fracture, with a lower risk of anterior segment ischemia.

Botulinum Toxins, Type A↗
PubMed2004

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SACS mutations are responsible for ARSACS in Québec families. In four of the five families tested we detected new disease-causing mutations using automated sequencing of SACS. Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.

Adolescent↗
PubMed2002

Striatal dopaminergic denervation in early and late onset Parkinson's disease assessed by PET and the tracer [11C]FECIT: preliminary findings in one patient with autosomal recessive parkinsonism (Park2).

Neuroimaging studies of striatal dopamine transporters (DAT) have shown that this measurement is a specific marker of dopaminergic degeneration in patients with Parkinson's disease. However, little data is available in subjects with early disease onset, particularly in those with autosomal recessive parkinsonism. We measured striatal DAT binding in 10 patients with early onset PD (onset <40 years) and in 10 with late onset PD (onset >50 years) using PET and the tracer [(11)C]FECIT. One early onset subject presented a mutation in the parkin gene consistent with autosomal recessive parkinsonism. Data were compared with those of 15 control subjects. We found a comparable decrement of striatal DAT binding in early and late onset PD. Loss was widespread and bilateral in the patient carrying the Park2 mutation, suggesting a different pattern of denervation in these individuals.

Adult↗
PubMed2005

New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia (AOA) has been delineated. It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The phenotypes share several similarities, and the responsible genes, ATM, MRE11, APTX, and SETX, respectively, are all implicated in DNA break repair. As in many other DNA repair deficiencies, neurodegeneration is a hallmark of these diseases. Recently, the genes for two new autosomal recessive cerebellar ataxias with oculomotor apraxia, AOA1 and AOA2, were identified. Here, we report the phenotypic characteristics, genetic characteristics, and the recent advances concerning AOA1 and AOA2.

Cerebellar Ataxia↗
PubMed1983

Bilateral medial rectus muscle recession and lateral rectus muscle resection in the treatment of congenital esotropia.

In a retrospective study of 36 patients with congenital esotropia treated surgically by bilateral medial rectus muscle recession and lateral rectus muscle resection, we found that 22 patients (61%) had not required further surgery and that 14 patients (39%) had required further corrective surgery. Seven of these 14 patients had overcorrections and seven had undercorrections. Patients who required a second operation were significantly younger (mean age, 12 months) than those who did not (mean age, 23 months). The most common second surgical procedure was bilateral tenotomy or disinsertion of the inferior oblique muscle. Bilateral medial rectus muscle recession and lateral rectus muscle resection is useful in severe (50 prism diopters or more) congenital esotropia. The surgical success rate may be improved with bilateral inferior oblique muscle disinsertions or tenotomies in patients with inferior oblique muscle overaction. Accurate preoperative examinations in patients old enough to cooperate may help avoid overcorrection and undercorrection.

Adolescent↗
PubMed1981

Further characterization of recessive suppression in yeast. Isolation of the low-temperature sensitive mutant of Saccharomyces cerevisiae defective in the assembly of 60 S ribosomal subunit.

It has been shown that recessive suppressor mutations in the yeast Saccharomyces cerevisiae may cause sensitivity towards low temperatures (very slow growth or lack of growth at 10 degrees C). One of the sup 1 low temperature sensitive (Lts-) mutants, 26-125A-P-2156, was studied in detail. After a prolonged period of incubation (70 h) under restrictive conditions the protein synthesis apparatus in the mutant cells was irreversibly damaged. In addition, Lts- cells incubated under restrictive conditions synthesize unequal amounts of ribosomal subunits, the level of 60 S subunit being reduced. It has been suggested that the recessive suppression is mediated by a mutation in the gene coding for 60 S subunit component, probably a ribosomal protein. The mutation leads simultaneously to a defect in the assembly of 60 S subunit and to low-temperature sensitive growth of the mutant.

Fungal Proteins↗
PubMed1988

Tumorous-head-type mutants of the distal bithorax complex cause dominant gain and recessive loss of function in Drosophila melanogaster.

The homeotic mutants tuh-3, SGA62, I127, and R17.32 are located in the abdominal portion of the bithorax complex in Drosophila melanogaster. The genes act as semidominants in the head, causing a gain of expression of leg, genitalia, tergite, or combinations of the structures. SGA62, tuh-3, and I127 additionally act as recessives in the posterior abdomen, causing a loss of these functions. Each mutant has its own focus of expression in the head region. I127 and tuh-3 can cause head defects only in the presence of the recessive maternal effect allele tuh-1h, while SGA62 and R17.32 cause head defects in the absence of this maternal effect. In the presence of the dominant tuh-1g maternal effect allele, the tuh-3 and I127 heads are normal. However, these flies now show a genital disc defect. SGA62 homozygotes have abdominal segments 6 and 7 transformed into a more anterior segment irrespective of the maternal effect in force. R17.32 appears to map to the abd-A domain, while SGA62, I127, and tuh-3 belong to Abd-B. SGA62 is located in the morphogenetic element of Abd-B, while I127 has characteristics of mutants affecting both the morphogenetic and regulatory elements of Abd-B. The tuh-3 mutant is within the regulatory element. The maternal effect alleles appear to interact specifically with mutants in the regulatory region of Abd-B.

Alleles↗
PubMed1983

Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome.

In three siblings with autosomal recessive idiopathic strio-pallido-dentate calcinosis (SPDC) and in three other siblings with Cockayne's syndrome (CS) studies on plasma values of calcium and phosphate, intestinal calcium absorption, radiograms of the hands and studies on the influence of parathyroid hormone (PTH) on the renal threshold for phosphate revealed no abnormalities. In one of the SPDC patients and one of the CS patients the effect of PTH on the cyclic adenosine monophosphate (cAMP) concentrations in urine and cerebrospinal fluid (CSF) were determined. In both a normal response of urinary cAMP was noted. In the CS patient the response of CSF cAMP was also normal. The SPDC patient, however, had a significantly decreased response of CSF cAMP. It is suggested that a decreased sensitivity of the cerebral adenylate cyclase complex is involved in the etiology of autosomal recessive idiopathic SPDC. Subsequently this disorder could be considered as cerebral pseudohypoparathyroidism. The etiology of CS remains unknown.

Adolescent↗
PubMed2005

Transconjunctival Müller muscle recession with levator disinsertion for correction of eyelid retraction associated with thyroid-related orbitopathy.

PURPOSE: To evaluate the efficacy of transconjunctival Müller muscle recession and graded levator disinsertion for eyelid retraction in patients with thyroid-related orbitopathy (TRO). DESIGN: Retrospective consecutive case series. METHODS: Medical record review of 78 TRO patients (107 eyelids) who underwent surgery for upper eyelid retraction in a 5-year period was performed. Main outcome measures were anatomic and functional success, minimal reflex distance (MRD), lagophthalmos, eyelid asymmetry, and patient discomfort. RESULTS: One hundred seven eyelid retraction surgeries were performed on 78 TRO patients (63 women, mean age 49 years); mean follow-up time was 16.7 months. Upper eyelid position, lagophthalmos, exposure keratopathy, and patients' discomfort markedly improved after surgery (P < .001). Marginal reflex distance (MRD1) decreased an average of 2.6 mm from 6 mm pre-operatively to 3.4 mm post-operatively (P < .001); lagophthalmos decreased an average of 0.6 mm from 1.3 mm pre-operatively to 0.4 mm post-operatively (P = .006) Failure rate was 8.4%, most improved with a second surgery. Overcorrection was noticed in three cases (2.8%). Eyelid asymmetry improved from a mean of 1.0 mm pre-operatively to 0.4 mm post-operatively (P = .001); more than 80% of patients showed eyelid asymmetry of 1 mm or less. CONCLUSION: Transconjunctival Müller muscle and levator recession is safe and effective in correction of mild, moderate, or severe eyelid retraction in TRO patients. The failure rate is less than 10% and may be addressed by a second surgery.

Conjunctiva↗