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Biomedical subjects

S Farah

Publications and source records attributed to S Farah.

At least 19 recordsLinked to original sources
PubMed2000

What is the schizophrenic patients' level of information about their disease and their treatment?

Improved compliance with antipsychotic medication is a major issue in schizophrenic management. For this purpose educational programs have been used, but up to now, little or no information has been gathered or published in France concerning schizophrenic patients' opinion on information they have about their disease and their treatment. Thus we conducted a survey in concert with 78 psychiatrists from the French psychiatric health service. From this cross sectional survey we assessed 336 outpatients (male: 72%; mean age: 36 +/- 10.4 years) with schizophrenia according to the DSM IV (paranoid sub type: 57%, disorganized: 12%, catatonic: 1%, undifferentiated: 12%, residual: 18%). The mean duration of the illness was 11.6 years (sd: 8.5) and the mean duration of the follow up with the same psychiatrist was 5.4 years (sd: 5.1). Patients completed a questionnaire which assessed their level of information on mental illness and treatment. The diagnosis of schizophrenia has been told to their patients by 39% of the psychiatrists, and treatment has been explained to the patients by 96% of the practitioners. Results indicate less than half of the patients (45%) felt ill, only 46% thought they knew their illness well or very well (nevertheless only 31% of them named spontaneously the diagnosis of schizophrenia or psychosis), and 61% considered that they had been given sufficient information. Most of the patients (79%) were persuaded that their treatment was useful, and 75% of patients were completely satisfied with their treatment. Surprisingly 92% reported taking their medication regularly. Most patients think that a high level of information about their illness (74%) and treatment (79%) help them to cope better with their schizophrenia. Analysis performed according to patients characteristics indicated that paranoid patients felt more ill (p = 0.035) than others, thought to know less about their illness (p = 0.0065), and were less satisfied with their treatment (p = 0.04) and their level of information (p = 0.03). Patients with a duration of their illness longer than 10 years were more convinced of the utility of their treatment (p = 0.02) and had debated more on the choice of their treatment with their psychiatrist (p = 0.047). Patients older than 35 years were more satisfied with their information (p = 0.002). More patients with atypical antipsychotics accepted to take their treatment on a regular basis (p = 0.035) compared to patients under classical neuroleptics. This survey underlines that mental health consumers' opinions can be obtained even in the field of schizophrenia, and argues in favour of further such investigations. It also highlights the need for educational programs on schizophrenia and antipsychotic medications.

Adult↗
PubMed1999

New syndromic entity of situs inversus totalis.

A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype.

Abnormalities, Multiple↗
PubMed1998

A rho-associated protein kinase, ROKalpha, binds insulin receptor substrate-1 and modulates insulin signaling.

Insulin receptor substrate-1 (IRS-1) is phosphorylated on multiple tyrosine residues by ligand-activated insulin receptors. These tyrosine phosphorylation sites serve to dock several Src homology 2-containing signaling proteins. In addition, IRS-1 contains a pleckstrin homology domain and a phosphotyrosine binding domain (PTB) implicated in protein-protein and protein-lipid interactions. In a yeast two-hybrid screening using Xenopus IRS-1 (xIRS-1) pleckstrin homology-PTB domains as bait, we identified a Xenopus homolog of Rho-associated kinase alpha (xROKalpha) as a potential xIRS-1-binding protein. The original clone contained the carboxyl terminus of xROKalpha (xROK-C) including the putative Rho binding domain but lacking the amino-terminal kinase domain. Further analyses in yeast indicated that xROK-C bound to the putative PTB domain of xIRS-1. Binding of xROK-C to xIRS-1 was confirmed in Xenopus oocytes after microinjection of mRNA corresponding to xROK-C. Furthermore, microinjection of xROK-C mRNA inhibited insulin-induced mitogen-activated protein kinase activation with a concomitant inhibition of oocyte maturation. In contrast, microinjection of xROK-C mRNA did not inhibit mitogen-activated protein kinase activation or oocyte maturation induced by progesterone or by microinjection of viral Ras (v-Ras) mRNA. These results suggest that xROKalpha may play a role in insulin signaling via a direct interaction with xIRS-1.

Amino Acid Sequence↗
PubMed1998

The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.

We describe a Bedouin family with the rare autosomal recessive infection-like syndrome of microcephaly, intracranial calcification and CNS disease that has so far been documented in only eight families including one from Kuwait. In the present family, the female proband had congenital microbrachycephaly, hypertonia, early-onset tonic-clonic seizures, a palpable liver and mild pulmonary stenosis. Follow-up examination of the girl identified delayed developmental milestones while head CT scan revealed partial agenesis of the corpus callosum, brain atrophy, dilated ventricles and scattered calcific foci in the caudate nuclei, the thalami, and the periventricular white matter. The possibility of intrauterine TORCH infection was excluded by the negative results of repeated immunovirology study and by the failure to recover viral inclusions in urine cultures. The proband had three apparently affected cousins with spasticity and CT findings of microcephaly and intracranial calcification. Other previously documented cases with the congenital intrauterine infection-like syndrome are reviewed.

Abnormalities, Multiple↗
PubMed1998

Cutis verticis gyrata-mental deficiency syndrome: report of a case with unusual neuroradiological findings.

The clinical and radiological features of a patient with Cutis Verticis Gyrata-Mental Deficiency syndrome are reported. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, microcephaly with multiple furrows on the scalp and normally growing overlying hair. He was blind with bilateral optic atrophy, multiple joint contractures and spastic tetraplegia. Skull X-ray showed thickened calvarial bones but other features of pachydermoperiostosis were absent. Brain MRI showed well developed, albeit small, frontal and anterior temporal lobes with a normal gray-white matter interface. The parietal and occipital cortex were atrophic with widening of the occipital horns (colpocephaly). The sylvian fissures were accentuated because of atrophic parietal operculae. The splenium of the corpus callosum was hypoplastic. There was atrophy of the cerebellar cortex. Contrary to the previously described cerebral cortical polymicrogyria in Cutis Verticis Gyrata-Mental Deficiency syndrome, there was no evidence to suggest any migration disorder in our patient. The present report highlights the clinico-radiological heterogeneity of the syndrome.

Adult↗
PubMed1998

Triophthalmia and facial clefting: a case report.

We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.

Craniofacial Abnormalities↗
PubMed1998

Behçet's syndrome: a report of 41 patients with emphasis on neurological manifestations.

Forty one patients with the clinical diagnosis of Behçet's syndrome from two teaching hospitals in Kuwait were studied. There were 34 male and seven female patients. Age at presentation ranged from 14 to 48 years. Neurological manifestations were present in 24 patients. Eleven patients showed evidence of increased intracranial pressure, and 10 of these had radiologically confirmed dural sinus thrombosis. Five patients presented with a meningoencephalitic or meningomyelitic picture, three with a stroke-like picture, and three with primarily brain stem signs. One patient developed trigeminal neuritis, and five patients exhibited (along with other features) variable degrees of psychological manifestations. All patients with neurological involvement were treated with steroids, and some also had courses of other immunosuppressant drugs and colchicine. The disease took a relatively benign course, except those patients with meningoencephalitic and meningomyelitic presentation, one of whom died from the disease. Those treated early had a better prognosis. The incidence of dural sinus thrombosis in this series of patients is unusually high. In most patients, the course of the disease was more favourable than reported in the literature. This may be attributed to early and aggressive treatment.

Adolescent↗
PubMed1998

Molecular cloning and characterization of Xenopus insulin-like growth factor-1 receptor: its role in mediating insulin-induced Xenopus oocyte maturation and expression during embryogenesis.

We have cloned a complementary DNA encoding the putative Xenopus insulin-like growth factor-1 (xIGF-1) receptor. Injection of messenger RNA derived from the cloned complementary DNA into Xenopus oocytes resulted in the expression and correct processing of the receptor's alpha- and beta-subunits. Using antibodies generated against protein expressed against the cloned sequence, we demonstrated that the endogenous xIGF-1 receptor in Xenopus oocytes was activated by nanomolar concentrations of mammalian IGF-1 and by insulin approximately 100-fold higher in concentration. This receptor activation profile correlated with hormone-induced Xenopus oocyte maturation. Furthermore, injection of a neutralizing antiinsulin receptor antibody into Xenopus oocytes inhibited hormone-induced xIGF-1 receptor activation. These results provide molecular and biochemical evidence supporting a role for xIGF-1 receptor in mediating insulin/IGF-1-induced Xenopus oocyte maturation. We also report here that embryonic transcription of xIGF-1 receptor is activated during the formation of the central nervous system in early Xenopus embryos.

Amino Acid Sequence↗
PubMed1998

Diagnosis and treatment of isolated inferior oblique muscle palsy: a report of seven cases.

PURPOSE: To review and report our experience in attempting to surgically eliminate the vertical deviations and the anomalous head posture in patients with inferior oblique palsy (IOP) and to add to the literature another etiology for IOP: denervation/myectomy of that muscle. SUBJECTS AND METHODS: Seven patients demonstrating findings characteristic of an isolated IOP are reported. Six were unilateral and one was bilateral. All met the Bielschowsky/Parks' Three Step Test criteria to identify an isolated IOP. Six patients had surgery that consisted of weakening the superior oblique (SO) muscle of the affected eye alone or in combination with superior rectus recession of the fellow eye. RESULTS: All patients were ultimately successfully alleviated of their vertical deviations and anomalous head postures. (Two patients developed an iatrogenic superior oblique palsy (SOP) which responded well to additional surgery.) CONCLUSIONS: The treatment of choice for IOP is tenotomy or tenectomy of the ipsilateral superior oblique muscle alone or in combination with recession of the contralateral superior rectus muscle.

Adolescent↗
PubMed1997

Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?

We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both hands, microphallus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant. This phenotype overlaps both the Varadi-Papp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome). This phenotypic overlap is discussed in light of the concept of splitting and lumping in genetic diseases.

Arabs↗
PubMed1997

Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity?

We present a consanguineous Pakistani family in which four patients (two males and two females) had a new Troyer-like phenotype. All four patients showed some marfanoid features (span more than height, arachnodactyly, high arched palate), and generalized hyper-reflexia. The two affected males and the younger female also had microcephaly and mental retardation. Features only present in the affected males included short stature, dysarthria, amyotrophy of the distal muscles, fasciculations and tremor. The distal muscle wasting in the two affected brothers reflected the presence of axonal neuropathy demonstrated both electrophysiologically and by nerve biopsy. Although neither of the sisters had any degree of distal muscle wasting, both had reduced M-wave amplitude of the tibial and peroneal nerves, bilaterally. The described phenotype does not fit any of the recognized forms of hereditary spastic paraparesis with distal muscle wasting. The specific axonal neuropathy differentiates it from familial motor neuron disease with mental retardation. The reported phenotype represents a possible new Troyer-like syndrome similar to that described by Neuhäuser (1976), but differs from it by the lack of major dysmorphic features.

Adolescent↗
PubMed1997

Marinesco-Sjögren syndrome in a Bedouin family.

Marinesco-Sjögren syndrome is rarely reported in the Middle East. This is the 2nd report of Marinesco-Sjögren syndrome in an Arab family. The clinical features of 2 affected brothers are described. Electrophysiological studies of the 2 patients showed primarily myopathic changes, whereas sural nerve biopsy revealed segmental demyelination and axonal degeneration. The role of tissue biopsy and the relationship to different electrophysiological studies are discussed. Both patients were noticed to have abnormally short lateral 3 metatarsals, a feature not present in other healthy members of the family. We suggest that this feature should be considered part of the syndrome profile.

Abnormalities, Multiple↗
PubMed1997

Unusual traits associated with Robinow syndrome.

We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.

Abnormalities, Multiple↗
PubMed1997

[Vertebral hemangioma symptomatic during pregnancy. A case report and review of the literature].

Vertebral hemangioma is a relatively frequent but rarely symptomatic tumor. Physiologic changes during pregnancy may lead to spinal cord compression due to tumor expansion. We report a case of vertebral hemangioma during pregnancy: a 28-year-old woman, third trimester, third gestation, consulted for paraplegia of rapid onset; Magnetic resonance imaging showed a lesion of the 9th thoracic vertebra; a cesarean section was done, followed by laminectomy with partial symptom relief; pathology showed a benign vertebral hemangioma and treatment was completed with radiotherapy.

Adult↗
PubMed1996

Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11.

In a large collaborative screening project, 370 men with idiopathic azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA loci in Yq11. In 12 individuals, we observed de novo microdeletions involving several DNA loci, while an additional patient had an inherited deletion. They were mapped to three different subregions in Yq11. One subregion coincides to the AZF region defined recently in distal Yq11. The second and third subregion were mapped proximal to it, in proximal and middle Yq11, respectively. The different deletions observed were not overlapping but the extension of the deleted Y DNA in each subregion was similar in each patient analysed. In testis tissue sections, disruption of spermatogenesis was shown to be at the same phase when the microdeletion occurred in the same Yq11 subregion but at a different phase when the microdeletion occurred in a different Yq11 subregion. Therefore, we propose the presence of not one but three spermatogenesis loci in Yq11 and that each locus is active during a different phase of male germ cell development. As the most severe phenotype after deletion of each locus is azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable phase of function in human spermatogenesis and candidate genes involved will be discussed.

Chromosome Mapping↗
PubMed1996

Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.

Abnormalities, Multiple↗
PubMed1995

External fixation of intertrochanteric fractures of the femur.

Forty patients with intertrochanteric fractures of the femur were treated by external fixation between July 1992 and April 1994. They were selected because of their high surgical risk, and evaluated by radiographs immediately after operation, and at 30 and 90 days. The results indicate that external fixation is a useful method of treatment for this type of patient.

Adolescent↗