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S Raskin

Publications and source records attributed to S Raskin.

At least 19 recordsLinked to original sources
PubMed2005

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding.

In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolution multicolor banding (MCB) characterized the aberrations of the abnormal chromosomes 1 as a (sub)terminal duplication and inverted duplications, respectively. Although three different chromosomal regions i.e. 1p36.1, 1p36.2-->1p31.3 and 1q41-->1q44 were involved, all three patients had similar patterns of dysmorphic findings. These cases demonstrate the power of MCB in the characterization of small interstitial chromosomal aberrations and resulted in the characterization of three previously unreported congenital chromosome 1 rearrangements.

Abnormalities, Multiple↗
PubMed2004

Generalized dystonia and striatal calcifications with lipoid proteinosis.

Lipoid proteinosis (LP) is an autosomal recessive disease that typically presents with papular, verrucous, poxlike, or acneiform scars and lesions and hoarseness. LP was recently mapped to the 1q21 locus and shown to result from mutations in the extracellular matrix protein 1 gene (ECM1). Epilepsy, mental retardation, and hippocampal calcifications can occur. The authors describe a patient with generalized dystonia caused by striatal calcifications.

Adult↗
PubMed2004

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.

Adult↗
PubMed2004

[The sleep obstructive apnea and hypopnea syndromes].

Since two decades, sleep breathing disorders are more wisely recognized by the Belgian medical community. Among these, the Obstructive Sleep Apnea Syndrome (OSA) is the best known but its frontiers with others syndromes such as the Upper Airway Resistance Syndrome (UARS), the Central Sleep Apnea Syndrome (CSAS) or the Overlap Syndrome are still matter of discussion. Its causes are plurifactorial, and many recent publications draw the attention to its long term effects in the cardiovascular and neuropsychiatric fields. This article summarizes the present definitions and features associated with OSA, from clinical and neurophysiological perspectives, and the different consequences to which untreated or underdiagnosed patients are exposed.

Cardiovascular Diseases↗
PubMed2003

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.

The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly longer disease duration than patients without the mutation but with similar severity of disease, suggesting a slower disease course. Two patients with parkin mutations had atypical clinical presentation at onset, with predominant tremor when standing.

Adult↗
PubMed2003

[Vertical dimension in the OSAHS in adults: an example of functional alteration].

Obstructive sleep apnea and hypoapnea syndrome (OSAHS) is important to orthodontists for several reasons. The authors, after defining OSAHS and describing it briefly, review the literature dealing with the cranio-facial morphology of apnea patients. They report the results of their cephalometric study, which is based on an architectural analysis of 274 patients. Their facial characteristics, especially vertical dimension, are consistent with those displayed by mouth breathing children. Changes in respiratory functioning modify the mechanical behavior and the structures of the upper airways. Osseous tissues also show signs caused by these changes. The authors propose an etiopathogenic model.

Adult↗
PubMed2002

[Cephalometric assessment in obstructive sleep apnea and hypopnea syndrome].

Several cephalometric studies have been published to study sleep apnea and hypopnea. The purpose of this review is to provide a clear analysis of the different and apparently contradictory cephalometric results and to describe certain pitfalls of the method. In general, an excessive development of the tongue and soft palate are observed in these subjects, limiting the pharyngeal airway. Bony anomalies include mandibular retrognathism and an excessive anterior ventral development of the skull associated with insufficient anterior growth of the base of the skull. The head is held in extension. These different factors contribute to blocking the upper airway and favor pharyngeal collapse. Cephalometry can be used to identify patients at risk and to propose an apnea/hypopnea index for precise etiological diagnosis and therapeutic decision making.

Cephalometry↗
PubMed2002

[Our experience with geniopexy in the treatment of OSAS].

OBJECTIVE: We examine geniopexy efficacy in OSAS treatment. STUDY DESIGN: Seven patients, aged 36 to 61 years, were studied. The mean body mass index was normal. RESULTS: Surgical late complications (modified symphysis proprioception) occurred in 4 patients. No patient was improved in sleep problems. Retromaxilly and retromandibuly were found in all patients by cephalometric study. DISCUSSION: Our results are quite different from these described successfully by other centers. Geniopexy do not move maxillar and mandibular skeletal bones, which are retruded in our serie. This explains maybe our bad results. Actually, we propose for this patients maxillo-mandibular advancement.

Adult↗
PubMed2001

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report.

We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

Child, Preschool↗
PubMed2001

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease.

A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

Adult↗
PubMed2001

Surgical management of maxillomandibular advancement in sleep apnea patients: specific technical considerations.

Maxillomandibular advancement is an integral part of the surgical treatment of patients suffering from obstructive sleep apnea. A number of publications report its efficacy and have attempted to define predictive success criteria. However, few authors have shown an interest in the surgical specificity of this intervention and in the difficulties that can be encountered, which differ from those seen in conventional orthognathic surgery. In this article, a series of patients treated with maxillomandibular osteotomy to correct obstructive sleep apnea syndrome (n = 17) are compared with patients who underwent surgery for the correction of dentofacial disharmonies (n = 33). Observations emphasized the importance of respecting a strict surgical and postsurgical protocol to avoid any technical traps linked to maxillomandibular advancement, both in preoperative simulations and during and after surgery. Results concerning sleep parameters will be the subject of a future publication.

Adolescent↗
PubMed2000

Risperidone in treating behavioural disturbances of Prader-Willi syndrome.

OBJECTIVE: This paper reports the results of risperidone treatment in seven patients (six adults and one adolescent) diagnosed as suffering from Prader-Willi syndrome (PWS) accompanied by severe behavioural disturbances. Risperidone was chosen following the failure of these patients to respond to other acknowledged modes of treatment for the psychiatric manifestations of PWS. METHOD: This was a prospective open-label study. Measures of Clinical Global Impression Scale (CGIS), Retrospective Overt Aggression Scale (ROAS), Aggression Score (AS) and weight were obtained during two baseline visits and again following 37 weeks of treatment with risperidone. RESULTS: Low dosages (1-3 mg/day; 1.6 mg/day on average) of risperidone brought about notable clinical improvement with no apparent adverse side effects. All measures evaluated--general behaviour, CGIS, OAS and weight--reacted favourably to the treatment protocol. CONCLUSION: The preliminary results presented here suggest that risperidone is useful in treating PWS due to its positive effect on the disruptive behavioural symptoms that accompany it.

Adolescent↗
PubMed2000

Olanzapine and sulpiride: a preliminary study of combination/augmentation in patients with treatment-resistant schizophrenia.

Coadministration of olanzapine, an atypical neuroleptic, with sulpiride, a selective D2 antagonist, is suggested as an efficient strategy for treating patients with resistant unremitting schizophrenia. The psychopharmacologic rationale that may account for the enhanced clinical efficacy of combining sulpiride with olanzapine and vice versa is the difference in affinity of the two drugs to brain receptors. Olanzapine affinity is related more to serotonin 5-HT2 than to dopamine-2, whereas sulpiride is considered a selective D2 blocker. The adjunction of a selective D2 antagonist to olanzapine may act as the olanzapine's augmentor by enhancing D2 blockage. This mode of treatment was introduced to six patients with chronic schizophrenia who showed noteworthy and rapid clinical improvement, supported by a decrease in their scores on the Positive and Negative Syndrome Scale and Brief Psychiatric Rating Scale. No bothersome side effects were noticed. This clinical approach is in accordance with the findings of previous reports assessing the efficacy of the combined treatment of clozapine and sulpiride. The grounds for this treatment regimen using olanzapine rather than clozapine are discussed, calling for further studies to affirm the hypothesis and clinical results.

Adult↗