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Nadia Sakati

Publications and source records attributed to Nadia Sakati.

9 recordsLinked to original sources
PubMed2006

Type I congenital multiple intraspinal extradural cysts associated with distichiasis and lymphedema syndrome.

OBJECTIVE: The hereditary syndrome of multiple congenital intraspinal cysts associated with distichiasis, lymphedema and other congenital deformities is extremely rare. Modern imaging techniques have promoted the non-invasive diagnosis of spinal pathology and paved the way for better surgical planning. We reviewed the clinical data, imaging studies and treatment outcomes of a 12-year-old boy with this syndrome. CLINICAL PRESENTATION: Progressive spastic paraparesis with signs of spinal cord compression leading to frequent falls. This was associated with bilateral double row of eyelashes and pretibial edema. The MRI of thoracic spine depicted two large elongated extradural lesions extending from D5-D10 with signal intensity compatible with cerebrospinal fluid leading to severe compression of the spinal cord dorsally. TREATMENT: Laminotomy and complete microsurgical excision of the cysts resulted in a fast and full clinical recovery of his neurological deficit. CONCLUSION: Type I congenital intraspinal cysts is a rare etiology of cord compression syndrome and may be associated with distichiasis, lymphedema and other congenital deformaties. It has several characteristics, which include the higher incidence in thoracic spine and younger age group, disproportional sever motor deficit as compared with sensory disturbances and the excellent clinical recovery following successful surgical treatment.

Child↗
PubMed2006

Persistent hyperinsulinaemic hypoglycaemia of infancy in 43 children: long-term clinical and surgical follow-up.

OBJECTIVE: To describe the clinical, surgical, biochemical, radiological and electrophysiological features of 43 Saudi children with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) who have been followed since 1983. METHODS: Data from 43 patients were retrospectively analysed. PHHI was diagnosed on the basis of high intravenous glucose requirement, high insulin to glucose ratio, negative urinary ketones and normal tandem mass spectrometry. The patients were assessed radiologically by brain magnetic resonance imaging and/or computed tomography and electrophysiologically by brain stem auditory evoked potential, visual evoked response and electroencephalogram. Patients who failed medical therapy received near total pancreatectomy. RESULTS: The patients were severely hypoglycaemic and intolerant to fast. Hypoglycaemic convulsion was the most commonly presenting complaint. Eighteen patients were developmentally delayed and 14 of them had brain atrophy. All patients, except nine, did not respond to medical treatment and underwent surgery. Four pancreatectomized patients developed diabetes and two had malabsorption. One baby had 180 cm resection of gangrenous bowel most likely secondary to octreotide. No common bile duct injury was encountered. One patient was treated medically during childhood and developed diabetes and gained weight during adolescence. CONCLUSION: PHHI is a relatively common and serious disease among Saudi children. Early intervention is necessary to avoid neurological damage in patients who are severely hypoglycaemic and unresponsive to medical therapy. Surgically and probably medically treated patients are at a high risk of developing diabetes, which could be the natural outcome of this disease. Care and spending time during surgery to visualize the common bile duct help in avoiding its injury.

Congenital Hyperinsulinism↗
PubMed2005

Recently available techniques applicable to genetic problems in the Middle East.

In this paper, we address the preventive health aspects of genetic problems in the Middle East and provide guidelines to prioritize preventive strategies. Applications of various novel genetic techniques such as comprehensive neonatal screening, high throughput heterozygote detection, preimplantation genetic diagnosis, Affymetrix systems, the NanoChip system and a new way of sensitive karyotyping for single-cell chromosome abnormalities are discussed. In conclusion, from the various genetic techniques available, each country should adopt strategies most suitable to its genetic needs and should prioritize the programs to be used in prevention.

Chromosome Aberrations↗
PubMed2004

Multiple displacement amplification on single cell and possible PGD applications.

Multiple displacement amplification (MDA) is a technique used in the amplification of very low amounts of DNA and reported to yield large quantities of high-quality DNA. We used MDA to amplify the whole genome directly from a single cell. The most common techniques used in PGD are PCR and fluorescent in-situ hybridization (FISH). There are many limitations to these techniques including, the number of chromosomes diagnosed for FISH or the quality of DNA issued from a single cell PCR. This report shows, for the first time, use of MDA for single cell whole genome amplification. A total of 16 short tandem repeats (STRs) were amplified successfully with a similar pattern to the genomic DNA. Furthermore, allelic drop out (ADO) derived from MDA was assessed in 40 single cells by analysing (i) heterozygosity for a known beta globin mutation (IVSI-5 C-G) and by studying (ii) the heterozygous loci present in the STRs. ADO turned out to be 10.25% for the beta globin gene sequencing and 5% for the fluorescent PCR analysis of STRs. Moreover, the amplification accuracy of MDA permitted the detection of trisomy 21 on a single cell using comparative genome hybridization-array. Altogether, these data suggest that MDA can be used for single cell molecular karyotyping and the diagnosis of any single gene disorder in PGD.

Alleles↗
PubMed2002

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43-44 (refs 5,6) and, despite the observed clinical variability, share an ancestral haplotype, suggesting a common founder mutation. We describe refinement of the critical region to an interval of roughly 230 kb and identification of deletion and truncation mutations of TBCE in affected individuals. The gene TBCE encodes one of several chaperone proteins required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the microtubule-organizing center (MTOC) and perturbed microtubule polarity in diseased cells. Immunofluorescence and ultrastructural studies showed disturbances in subcellular organelles that require microtubules for membrane trafficking, such as the Golgi and late endosomal compartments. These findings demonstrate that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and establish a potential connection between tubulin physiology and the development of the parathyroid.

Amino Acid Sequence↗
PubMed2002

Long-term follow up of carbonic anhydrase II deficiency syndrome.

OBJECTIVE: To describe the long term clinical, biochemical and radiological features of 35 Saudi Arabian children with carbonic anhydrase II deficiency syndrome who have been followed at King Faisal Specialist Hospital and Research Center, Riyadh since 1979. METHODS: The records of these patients were retrospectively evaluated. The diagnosis was based on the clinical and the radiological evidence of the disease. Carbonic anhydrase II level was measured in 9 patients. RESULTS: Clinically, these patients had typical facial features, growth failure and varying degrees of psychomotor retardation. Biochemically, all children had renal tubular acidosis that was of distal type in the majority of them. Radiologically, this syndrome was characterized by metyphyseal osteopetrosis and intracranial calcification that was progressive in 2 patients. Five patients were blind secondary to optic nerve entrapment and 2 patients developed anemia and secondary erythropoesis due to bone marrow involvement. Nineteen patients had attained the final adult height; the mean adult height was 146 cm (-3 standard deviation) in 11 females and 152 cm (-4 standard deviation) in 8 males. Two patients were married and had clinically and radiologically normal children. CONCLUSION: The syndrome of carbonic anhydrase II deficiency is usually benign in nature and compatible with long term survival, however it can progress and involve the cranial nerves. Close clinical and neurological assessment of these patients is mandatory to early detect and manage potential serious complications.

Acidosis, Renal Tubular↗
PubMedDate not supplied

Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.

BACKGROUND: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions (e.g., salt-losing crisis in congenital adrenal hyperplasia [CAH]) and gender assignment. Sex assignment in these children continues to be a challenging diagnostic and therapeutic problem. We studied the causes and characteristics of ambiguous genitalia in children who were referred to a cytogenetic laboratory. PATIENTS AND METHODS: We retrospectively reviewed a total of 120 medical records of patients with a primary indication of ambiguous genitalia that were referred to the cytogenetic lab for karyotyping during the period of 1989 to 1999. Diagnosis was based on a clinical impression from the primary physician, who was primarily a staff pediatrician, endocrinologist and/or pediatric urologist. RESULTS: CAH was the underlying cause of ambiguous genitalia in 41 of 63 patients with ambiguity due to endocrine causes; 39 of these patients showed a 46,XX karyotype and 2 cases were 46,XY (both the 46,XY patients had 3 beta-hydroxylase deficiency). In 57 patients, ambiguous genitalia were due to congenital developmental defects. The most common endocrine case of ambiguous genitalia was 21-OH deficiency. Seven patients were classified as idiopathic with six showing the 46,XY and one the 46,XX karyotype. Gender was reassigned at birth or at diagnosis in 15 patients. CONCLUSION: The etiology of ambiguous genitalia is variable. The physician managing these families could minimize the trauma of having a child with unidentified sex by providing appropriate genetic counseling so that the parents can make an early decision. Prenatal DNA testing in at-risk families should be considered and appropriate therapy offered to minimize or prevent genital ambiguity.

Adrenal Hyperplasia, Congenital↗