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PubMed1997

Autosomal recessive inheritance of affective disorders in families of responders to lithium prophylaxis?

In this paper we report the results of a study of the mode of inheritance in affective disorders responsive to lithium. Earlier we described a series of 71 families in which the genetic transmission was compatible with a single-gene model. We have now carried out an independent replication study on 25 newly recruited families in a different geographical location. The autosomal recessive model from our original study could not be rejected with the new data. In a subsequent analysis of the pooled sample of 96 families, a recessive model with a common predisposing allele (q = 0.16) and sex-specific penetrance (0.35 in males, 0.66 in females) fitted the data best. On the other hand, X-chromosome and polygenic models could be rejected. The finding of a major-gene effect represents a specific hypothesis that can be tested by molecular genetic techniques.

Adult↗
PubMed2006

[Recessed inferior rectus syndrome: surgical exploration and pathophysiology].

INTRODUCTION: Progressive overcorrection after inferior rectus recession may occur in 10%-40% of cases, whatever the surgical indication, whatever the technique. The clinical features are hypertropia, inferior rectus underaction, and lid retraction. MATERIAL AND METHODS: The anatomy of the inferior rectus during surgical exploration is described in 11 cases initially operated on for different types of strabismus. RESULTS: Several types of slippage and several types of excessive fibrosis in the area of the inferior rectus are described. DISCUSSION: Our surgical data are compared to the pathophysiological hypothesis described in the literature. Preventive measures and curative treatment are discussed. CONCLUSION: Even a better understanding of the physiopathogenesis of overcorrection after inferior rectus recession could not prevent its occurrence, despite upgraded surgical technique. There is no consensual opinion on how to prevent and cure these overcorrections. Associating oculomotor surgery and lid surgery is an interesting direction for new research.

Adult↗
PubMed1983

Verruciform xanthoma. Occurrence in eroded skin in a patient with recessive dystrophic epidermolysis bullosa.

Verruciform xanthoma is a rare, granular, plaque-like lesion which occurs on mucosal surfaces and is characterized by acanthosis with xanthoma cells in the dermis between rete pegs. A case of verruciform xanthoma is reported which occurred on the sacral region in a patient with recessive dystrophic epidermolysis bullosa (RDEB). Electron microscopic studies suggested that many of the xanthoma cells were fibroblasts whose vacuolated appearance was expressed in cell culture and persisted for several passages. The occurrence of a verruciform xanthoma in a patient with severe recessive dystrophic epidermolysis bullosa suggests that repeated epidermal and/or dermal damage gave rise to a reactive process involving the formation of lipid-laden cells.

Adolescent↗
PubMed2001

Transitions of employment status among suicide attempters during a severe economic recession.

Previous studies have shown a positive association between unemployment and attempted suicide. This study investigated transitions of employment status among suicide attempters during the severe economic recession. The main research question was whether inequality in the labour market also prevails among as selected a population as suicide attempters. The material consisted of 2495 persons who attempted suicide during 1989-1994 in Helsinki, Finland. Logistic regression analysis and survival analysis were used. Unemployment rates among suicide attempters were higher than in the general population, male rates being higher than female rates throughout the recession. There were significant changes in the employment status of the entire attempted suicide population from 1989 to 1994, especially in terms of the transition from employment to unemployment. Gender, age and education level predicted exit from the labour market. Among suicide attempters young middle-aged men with low education had the highest risk of unemployment.

Adolescent↗
PubMed1996

Surgical treatment and postoperative splinting of recessive dystrophic epidermolysis bullosa.

Digital contractures and pseudosyndactyly, common manifestations in recessive dystrophic epidermolysis bullosa, cause significant functional impairment. The deformities progress with time, although surgery may delay the progression. The role of surgical intervention, hand therapy, and the use of prolonged splinting was examined in seven children (nine hands) with recessive dystrophic epidermolysis bullosa with an average age of 5 years, 8 months (range, 1 year, 10 months to 16 years, 4 months). The technique of surgery, postoperative regimen, and splinting differ from those previously reported. Surgery includes "de-cocooning" the hand and fingers, manipulating contracted joints, and full-thickness skin grafting to dermal defects. Surgery and the postoperative regimen of rigid night splints and web-retaining gloves for day wear has allowed arrest or minimal progression of contractures in complaint patients in short-term follow-up study of an average of 17 months (range, 12-28 months). An interdisciplinary team of physicians and surgeons, therapists, and nurses makes this care regimen possible and influences family compliance.

Adolescent↗
PubMed1997

Radial recession osteotomy for Kienböck's disease.

Sixty-eight patients underwent radial recession osteotomy for avascular necrosis of the lunate were retrospectively evaluated after an average follow-up period of 52 months. Twenty-five patients had undergone 1 or more additional procedures concurrently for treatment of Kienböck's disease. Pain diminished in 93% of patients, grip strength improved, and wrist motion was preserved; 75% of patients continued in their original occupations, including heavy labor. Surgical complications were uncommon. Four patients subsequently underwent salvage procedures, including 2 total wrist arthrodeses. Three of these 4 patients were receiving workers' compensation. One third of patients demonstrated lunate healing after joint leveling. Preliminary results suggest that concomitant lunate revascularization or vascularized bone grafting may improve the radiographic result. With rare exceptions, radial recession osteotomy relieves pain and improves function in Kienböck's disease.

Adolescent↗
PubMed1979

Pores of the palatine tonsillar crypt and pharyngeal tonsillar recess--a scanning electron microscopic study--.

The crypt of the palatine tonsil and the recess of the human pharyngeal tonsil were studied using a scanning electron microscope. Many pores, ranging in diameter from 10 to 100 microns, were observed on the luminal surface of the crypts. All of the crypt surface except at the sites of pores was covered by epithelial cells. Non-epithelial round cells, mostly lymphocytes, were exposed directly to the crypt lumen through these pores. In the lumen of palatine tonsillar crypts, numerous round cells were present which evidently pass through these pores from the parenchyma. This finding indicates that the tonsillar parenchyma is directly open to the crypt. Similar findings were obtained in the recess of the pharyngeal tonsil.

Child↗
PubMed2000

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.

Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF, syn. autosomal recessive juvenile parkinsonism, PARK2) is one of the hereditary parkinsonian syndromes. We examined subjects consisting of 43 patients from 22 families with AR-EPDF. The clinical features were relatively homogeneous, including the average age at onset of 26.1 years, beginning with dystonic gait disturbance, diurnal fluctuation of the symptoms (sleep benefit) unrelated to medication, dystonia (mainly foot dystonia), hyperactive tendon reflex, remarkable effect of levodopa and other antiparkinsonism drugs, susceptibility to dopa-induced dyskinesia, mild autonomic symptoms, absence of dementia, and slow progression of disease. Some patients had hysteric character or psychic symptoms provoked by medication. Pathologic study revealed neuronal loss in the substantia nigra pars compacta and locus coeruleus without Lewy body formation. We performed extensive molecular genetic analysis of the parkin gene in 16 families to identify a total of six different deletional mutations. In AR-EPDF loss of newly discovered 'Parkin' protein is responsible for selective degeneration of the pigmented neurons in the substantia nigra and locus coeruleus. Compared with autosomal dominant Parkinson's disease, AR-EPDF appears to be more prevalent and present in several ethnic groups.

Adolescent↗
PubMed2000

Autosomal recessive juvenile parkinsonism.

Autosomal recessive juvenile parkinsonism (AR-JP) is a hereditary neurodegenerative disorder characterized by levodopa-responsive parkinsonism with onset before age 40 years and a slowly progressive course. Families with this condition have been described predominantly in Japanese population, occasionally under different names including an autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF) or a familial form of juvenile parkinsonism. Recently, the causative gene for AR-JP was mapped on chromosome 6q25.2-q27, and subsequently a novel gene 'parkin' was identified by means of positional cloning. In this manuscript, we review the clinical, pathological and genetical aspects of AR-JP. It would not only promise to provide important insights into the molecular mechanisms of selective degeneration of dopaminergic neurons in AR-JP, but also bring insights into the mechanisms of degeneration of these neurons in Parkinson's disease.

Adolescent↗
PubMed1989

Some studies of the Duchenne and autosomal recessive types of muscular dystrophy.

The prevalence of Duchenne muscular dystrophy in the North of England (population 3.07 million) was 4.0 x 10(-5) in 1968, 3.6 x 10(-5) in 1979 and at least 2.3 x 10(-5) in 1988. The incidence in males was 31.2, 22.4 and at least 17.8 x 10(-5) in successive decades since 1952. Thirty-five percent of cases over the last 35 years have been preventable; but recently major additional educational programmes and routine screening tests for presymptomatic cases would have been required to improve prevention. The mortality has not changed in the last 20 years. Previously published criteria for the diagnosis of autosomal recessive muscular dystrophy in childhood have been tested prospectively. Seven new children fitting these criteria and 6 other girls with muscular dystrophy are described. Only 5 appear to have the autosomal recessive disease. Two boys had DNA deletions and 2 girls were severely manifesting carriers of the Duchenne gene.

Adolescent↗
PubMed1996

Femoral bone plug recession in endoscopic anterior cruciate ligament reconstruction.

Graft tunnel mismatch is a constant challenge in endoscopic ACL reconstruction with bone-patella tendon-bone allograft. Strategies for addressing this situation on the tibial side which include staple or suture fixation may compromise the postoperative pullout strength of the graft. We describe our technique for recession of the femoral bone plug as a solution to this problem and present our preliminary experience in a series of 100 consecutive patients followed-up to 1 year. Interference screw fixation was consistently achieved in both tunnels and recession did not influence anterior-posterior displacement by KT arthrometry.

Anterior Cruciate Ligament↗
PubMed2003

Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH).

BACKGROUND AND AIM: Inherited hypercholesterolemias are common disorders characterised by elevated LDL-C levels and premature coronary heart disease. We have recently described a recessive form of hypercholesterolemia (autosomal recessive hypercholesterolemia, ARH) in which LDL catabolism is reduced because of a mutation in the gene coding for an adaptor protein that impairs LDL-receptor (LDL-R) activity in the liver. The aim of this study was to characterise in detail the phenotypes of subjects with homozygous and heterozygous ARH. METHODS AND RESULTS: We have so far identified six Italian families with ARH and studied the clinical and biochemical characteristics of 11 homozygotes (age 13-47 years) and 12 obligate heterozygotes (age 42-83 years). The study protocol included an evaluation of the lipoprotein profile, LDL-R activity in fibroblasts, LDL binding activity, and apo E genotype; a structured questionnaire (CHD risk factors, medical history, current medications); a physical examination, resting and stress ECG, ultrasound examinations (heart, carotid arteries, Achilles tendons) and coronary angiography. The pedigrees were characterised by the absence of vertical transmission; consanguinity was documented in two families. Only the two previously described Sardinian mutations, ARH1 (c.432insA) and ARH2 (c.65G > A), were identified in the probands. All of the ARH homozygotes had large tendinous xanthomas, two had exertional angina, and four a positive stress ECG. None had experienced myocardial infarction or stroke. More than half had instrumental signs of atherosclerosis such as a positive stress ECG or positive carotid echo-doppler examination. The ARH heterozygotes were consistently normal and had a normal lipid profile. CONCLUSIONS: The ARH phenotype resembles that of familial hypercholesterolemia (FH) homozygotes, but ARH may be a less serious illness. The absence of vertical transmission, and the presence of mild coronary heart disease and consanguinity, can suggest a possible diagnosis of ARH. ARH might be considered a phenocopy of FH but heterozygous subjects seem to have a consistently normal phenotype.

Adolescent↗
PubMed2005

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

Cerebellar hypoplasia is a rare malformation caused by a variety of etiologies. It usually manifests clinically as non-progressive cerebellar ataxia with or without mental retardation. We further characterize a syndrome of autosomal recessive cerebellar hypoplasia in the Hutterite population, referred to as dysequilibrium syndrome (DES). We reviewed 12 patients (eight females, four males; age range 4 to 33 y) with this syndrome. Patients were examined and underwent a standard set of investigations to characterize better the clinical features, natural history, and neuroimaging of this syndrome. DES is an autosomal recessive disorder with distinct clinical features including global developmental delay, late ambulation (after age 6 y), truncal ataxia, and a static clinical course. Neuroimaging is characterized by hypoplasia of the inferior portion of the cerebellar hemispheres and vermis, and mild simplification of cortical gyri.

Adolescent↗
PubMed2003

Poly(ADP-ribose) polymerase-1 dimerizes at a 5' recessed DNA end in vitro: a fluorescence study.

Activation of poly(ADP-ribose) polymerase-1 (PARP-1) is an immediate cellular reaction to DNA strand breakage as induced by alkylating agents, ionizing radiation, or oxidants. The resulting formation of protein-bound poly(ADP-ribose) facilitates survival of proliferating cells under conditions of DNA damage probably via its contribution to DNA base excision repair. In this study, we investigated the association of the amino-terminal DNA binding domain of human PARP-1 (hPARP-1 DBD) with a 5' recessed oligonucleotide mimicking a telomeric DNA end. We used the fluorescence of the Trp residues naturally occurring in the zinc finger domain of hPARP-1 DBD. Fluorescence intensity and fluorescence anisotropy measurements consistently show that the binding stoichiometry is two proteins per DNA molecule. hPARP-1 was found to bind the 5' recessed DNA end with a binding constant of approximately 10(14) M(-2) if a cooperative binding model is assumed. These results indicate that hPARP-1 DBD dimerizes during binding to the DNA target site. A footprint experiment shows that hPARP-1 DBD is asymmetrically positioned at the junction between the double-stranded and the single-stranded telomeric repeat. The largest contribution to the stability of the complex is given by nonionic interactions. Moreover, time-resolved fluorescence measurements are in line with the involvement of one Trp residue in the stacking interaction with DNA bases. Taken together, our data open new perspectives for interpretation of the selective binding of hPARP-1 to the junction between double- and single-stranded DNA.

Amino Acid Sequence↗
PubMed2004

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

GTP-cyclohydrolase I (GTP-CH1, EC 3.5.4.16) is encoded by the GCH1 gene. Mutations in the GCH1 gene cause both dopa-responsive dystonia (McKusick 128230) and recessive GTP-CH1 deficiency (McKusick 600225). The exact molecular mechanism resulting in decreased GTP-CH1 activity in the patients is still obscure. We report the clinical features and molecular and functional study of the GCH1 gene in eight Italian patients affected by dominant and recessive GTP-CH1 deficiency. All the studied patients had mutations in the GCH1 gene. Three missense mutations (V205G, K224R, P199A), a frameshift mutation (Delta G693), and a splice-site mutation (ivs5 + 1g > c) were found. Except for K224R these are all novel mutations. To analyse the defect caused by the novel mutations, an in vivo functional assay in a Saccharomyces cerevisiae strain lacking the endogenous gene encoding GTP-CH1 ( FOL2 ) was performed. Complementation analysis showed that the Delta G693 and V205G mutations abolish the enzymatic function, while the P199A mutation causes a conditional defect. In conclusion, the clinical phenotypes displayed by our patients confirm the wide clinical spectrum of the disease and further support the lack of correlation between a given mutation and a clinical phenotype. Complementation analysis in yeast is a useful tool for confirming the pathogenetic effect of GCH1 mutations.

Adult↗
PubMed2000

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Genetic carrier testing of children is usually not recommended. However, there are no data concerning long-term psychological consequences, experience, and satisfaction of those tested as well as their recall of the test results. We evaluated these items retrospectively 10-24 years after carrier testing performed in childhood. Study material comprised 25 families with aspatylglucosaminuria (AGU), an autosomal recessive disorder, with 35 healthy sibs from all parts of Finland tested for carriership during childhood between 1973 and 1987. Of these sibs, 25 participated in our study. The questionnaire comprised multiple-choice and open-ended questions. The psychosocial well-being of the study subjects measured by the RAND 36 item Health Survey 1.0 (RAND) was, in general, at least as good as that of controls, and showed no significant differences between carriers and non-carriers (p > 0.154). All tested individuals were satisfied with the fact that they had been tested and stated that the decision to perform carrier testing on a child can be made by the parents. Of the 25 tested, 23 knew and understood their test result correctly at the time of our study. Most of the tested individuals (60%) stated that the best time for carrier testing would be in the childhood or in the teen years. This study indicates that carrier testing in childhood for an autosomal recessive disorder (AGU) had caused no measurable disturbance of quality of life in adulthood, and those tested reported being satisfied. However, we do not recommend testing in childhood, as the result is not needed prior to the time for reproductive decisions.

Adolescent↗
PubMed2003

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Mutations in genes encoding gap- and tight-junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2[connexin 26 (Cx26)] mutation spectrum in 60 index patients from mostly large Turkish families with autosomal-recessive inherited non-syndromic sensorineural hearing loss (NSSHL). GJB2 mutations were found in 31.7% of the families, and the GJB2-35delG mutation accounted for 73.6% of all GJB2 mutations. The carrier frequency of GJB2-35delG in the normal Turkish population was found to be 1.17% (five in 429). In addition to the described W24X, 233delC, 120delE and R127H mutations, we also identified a novel mutation, Q80R, in the GJB2 gene. Interestingly, the Q80R allele was inherited on the same haplotype as V27I and E114G polymorphisms. As little is known about the mutation frequencies of most other recently identified gap- and tight-junction genes as a cause for hearing loss, we further screened our patients for mutations in GJB3 (Cx31), GJA1 (Cx43), DeltaGJB6-D13S1830 (Cx30) and the gene encoding the tight-junction protein, claudin 14 (CLDN14). Several novel polymorphisms, but no disease-associated mutations, were identified in the CLND14 and GJA1 genes, and we were unable to detect the DeltaGJB6-D13S1830 deletion. A novel putative mutation, P223T, was found in the GJB3 gene in heterozygous form in a family with two affected children. Our data shows that the frequency of GJB2 mutations in Turkish patients with autosomal-recessive NSSHL and the carrier rate of the GJB2-35delG mutation in the Turkish population, is much lower than described for other Mediterranean countries. Furthermore, mutations in other gap- and tight-junction proteins are not a frequent cause of hearing loss in Turkey.

Amino Acid Substitution↗
PubMed2004

Children's mental health in times of economic recession: replication and extension of the family economic stress model in Finland.

This study evaluated the applicability of the family economic stress model (FESM) in understanding the influences of economic hardship on child mental health during a nationwide economic recession in Finland. The information was gathered from 527 triads of 12-year-olds and their mothers and fathers from a population sample. The structural equation models showed that the FESM fit the data well, indicating its generalizability in Finnish society. The results confirmed that a reduction in disposable family income constitutes a risk for child mental health through increased economic pressure and negative changes in parental mental health, marital interaction, and parenting quality. Controlling the children's prerecession mental health substantiated that economic hardship can lead to deterioration in children's mental health. Alternative models based on fully recursive analyses revealed reciprocal influences between parents and their children over time: Children's prerecession mental health problems predicted compromised parenting, which in turn contributed to children's internalizing and externalizing symptoms during the recession.

Adult↗