Biomedical subjects

D Bakalinova

Publications and source records attributed to D Bakalinova.

12 recordsLinked to original sources

PubMed1999

Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).

Genotype-phenotype analyses in cystic fibrosis (CF) have shown that cystic fibrosis transmembrane conductance regulator (CFTR) genotypes can predict pancreatic status but that correlations with pulmonary status remain elusive. We investigated the extent and severity of lung disease associated with CFTR mutation S549R (T-->G). This mutation is localized in intron 11 (nucleotide-binding fold 1 of the CFTR protein) and had so far been described as a private mutation only. It is associated with an extremely severe overall CF phenotypic expression. Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G). A diversity of pulmonary changes included marked hyperinflation in early infancy in conjunction with inflammation of the interstitium. After 2 years of age, signs of central airway involvement occurred in association with early signs of pulmonary hypertension. In conclusion, although there is some diversity in the radiological findings of these CF patients, R549 is a very severe allele associated with extreme lung disease and rapid pulmonary decline.

Child, Preschool↗

PubMed1999

Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia.

We report an Omani child from an inbred family with a combination of hypocalvaria, intrauterine growth retardation, craniofacial disproportion, partial synostosis of the right coronal suture and a small mandible associated with congenital heart defect and bowing of the limbs. A literature search failed to reveal a similar case.

Abnormalities, Multiple↗

PubMed1998

Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.

We report a child with multiple congenital abnormalities which include complex central nervous system malformations, dense bones with wide irregular metaphyses, facial dysmorphic features and lethality. We suggest that the combination of abnormalities in the child could represent a new syndrome.

Abnormalities, Multiple↗

PubMed1998

XK aprosencephaly.

We report a baby with aprosencephaly, preaxial limb defect and ambiguous genitalia. This combination of abnormalities have been reported previously and constitute the XK aprosencephaly syndrome.

Abnormalities, Multiple↗

PubMed1998

Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.

Abnormalities, Multiple↗

PubMed1997

Further delineation of Nevo syndrome.

Nevo syndrome is an autosomal recessive syndrome characterised by prenatal overgrowth, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Four children from two families have been reported previously. We report two further children from two unrelated Arab families from two different tribes. Both presented at birth with hypotonia, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Both have delayed motor development at the ages of 2 years 10 months and 3 months respectively. Cognitive development is normal in one, and the other case appears to be developing normally at 3 months of age. One has, in addition, a wide spinal canal on MRI of the spine indicating some degree of dural ectasia. This report brings the total number of children reported with this syndrome to six from four families; three of these families are Arab. This indicates that the gene for this syndrome is probably commoner in Arabs than in other populations.

Arabs↗

PubMed1997

Childhood chronic lung disease in the United Arab Emirates.

We report our observations on the pattern of referral of children with chronic lung disease (CLD) in Al Ain, United Arab Emirates. In a 1-year period 45 children were seen with severe lung disease from an estimated childhood population of 90,000. Bronchiectasis, cystic fibrosis (CF) and congenital lung disorders were the main diagnoses made. The indigenous Arab population who represent half the total population of the district appear to be at particular risk of severe lung disease. Chest X-ray and high resolution computerized tomography (CT) were the most commonly used imaging investigations to reach a diagnosis.

Adolescent↗

PubMed1997

Fibrochondrogenesis: clinical and radiological features.

We report an Omani child with fibrochondrogenesis. This neonatally lethal bone dysplasia is characterized by a distinctive facial appearance and specific radiological changes. Only seven cases have been reported previously. The clinical and radiological features together with the differential diagnosis is discussed.

Abnormalities, Multiple↗

PubMed1996

Desbuquois syndrome in an Arab Bedouin family.

We report a consanguineous Arab Bedouin family with Desbuquois syndrome, an AR syndrome of a midface hypoplasia and joint laxity. We believe this is the first report of this syndrome in Arab Bedouins.

Abnormalities, Multiple↗

PubMed1996

Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestation. We report five families with a total of 11 children affected with severe neonatal SJS. All presented after birth with skeletal abnormalities and feeding difficulties. Five had the typical pursed appearance of the mouth. Nine died from respiratory complications (five in the neonatal period and four before 2 years of age). One (4 months old) remains hospitalised since birth requiring continuous oxygen supplementation and one (5 months old) requires nasogastric tube feeding and has repeated attacks of aspiration. Only seven of the 17 previously reported neonatal SJS cases had a similar course to the patients in this report. We suggest that within neonatal SJS there is a subgroup which manifests severe respiratory and feeding problems and has a poor prognosis. This report brings the total number of children with neonatal SJS reported from the UAE to 14. This represents the largest review of this syndrome to date from one centre and indicates that this syndrome is fairly common in the population of the UAE.

Consanguinity↗

PubMed1996

Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.

We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the eldest is 8 years old with no complications. The literature is reviewed.

Adult↗

PubMed1995

Churg Strauss syndrome in childhood.

We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, weight loss, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia. He showed a good response to corticosteroid treatment and is currently doing well. The case illustrates the difficulty and importance of reaching a diagnosis in a rare condition for which there is an effective treatment, and serves to remind paediatricians of its existence.

Child↗