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Biomedical subjects

A Moosa

Publications and source records attributed to A Moosa.

At least 19 recordsLinked to original sources
PubMed2005

Cerebral aneurysms in atrial myxoma: a delayed, rare manifestation.

Atrial myxomas are the most common primary tumors of the heart. Neurologic involvement usually occurs as a stroke with ischemic episodes. Following excision of cardiac myxomas, delayed neurologic events owing to aneurysms are rare and have not been reported from India. We report an operated case of left atrial myxoma. The patient initially presented with a stroke and 6 months after the surgery, developed multiple intracerebral hemorrhages due to the rupture of fusiform cerebral aneurysms, without recurrence of the cardiac tumor.

Cerebral Angiography↗
PubMed2004

Blindness, ophthalmoplegia and extensive radiculopathy: an unusual clinical syndrome in intracranial sino-venous thrombosis.

Isolated intracranial hypertension is a common manifestation of intracranial sino-venous thrombosis (ISVT). Markedly elevated intracranial tension presents with unusual features including cranial neuropathies and radiculopathy. We report two cases with ISVT, which presented with headache, papilledema, progressive visual loss, complete ophthalmoplegia and flaccid areflexic quadriparesis along with a normal sensorium. Magnetic resonance imaging (MRI) of the brain and cervical spinal cord showed no lesions that could account for the neurological deficits. Markedly elevated lumbar CSF pressure was noted in both cases. Nerve conduction study favored radiculopathy in one case and was normal in the other. Raised intracranial pressure was found to be the sole cause for the clinical manifestations. Visual impairment persisted in one patient despite lumbo-peritoneal shunting while the other died of septicemia. To our knowledge there are no previous reports of a syndrome comprising blindness, ophthalmoplegia and flaccid quadriplegia due to intracranial hypertension in ISVT.

Adult↗
PubMed2002

Silent brain infarcts are rare in Kuwaiti children with sickle cell disease and high Hb F.

Overt stroke is rare among sickle cell disease (SCD) patients in Kuwait. However, there are no previous studies of silent cerebral infarcts, which have been described in up to 20% of American children with Hb SS. We have carried out a prospective brain MRI study among otherwise normal SCD patients, who were consecutive patients seen in a 1-year period to document the prevalence of silent cerebral infarcts in children with sickle cell disease in Kuwait. Any patient with a previous seizure or other neurological abnormality was excluded. MRI was done with a 1.5 Tesla unit with super-conducting magnet. T1- and T2-weighted sagittal and axial sections and proton density axial images were obtained in 5-mm thick sections. The study group consisted of 30 (23 SS and 7 Sbeta(0)Thal) patients-19 males and 11 females-whose ages ranged from 6 to 17 (mean of 9.8 +/- 3.5) years. Hb F ranged from 11% to 35% with a mean of 22.8% +/- 5.7%. Only one patient, a 10-and-a-half-year-old boy with Hb SS, showed hyperintense signals in the parietal white matter, consistent with small infarcts, thus giving a prevalence of 3.3%. Silent brain infarcts are uncommon in our patients, and the protective factors remain to be fully elucidated.

Adolescent↗
PubMed2001

Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.

Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on chromosome 1q21-q22 encodes the receptor tyrosine kinase for nerve growth factor. We reported that TRKA is the gene responsible for CIPA and we developed a comprehensive strategy to screen for TRKA mutations and polymorphisms, as based on the gene's structure and organization. Here we report eight novel mutations detected as either a homozygous or heterozygous state in nine CIPA families from five countries. Mendelian inheritance of the mutations was confirmed in seven families for which samples from either parent were available. However, non-mendelian inheritance seems likely for the family when only samples from the mother and siblings, (but not from the father) were available. A paternal uniparental disomy for chromosome 1 is likely to be the cause of reduction to homozygosity of the TRKA gene mutation in this family. Interestingly, a Hispanic patient from the USA has two autosomal genetic disorders, CIPA and pyruvate kinase deficiency, whose genetic loci are both mapped to a closely linked chromosomal region. A splice mutation and a missense mutation were detected in the TRKA and PKLR genes from the homozygous proband, respectively. Thus, concomitant occurrence of two disorders is ascribed to a combination of two separate mutant genes, not a contiguous gene syndrome. This finding suggests a mechanism responsible for two autosomal genetic disorders in one patient. All these data further support findings that TRKA defects can cause CIPA in various ethnic groups. This will aid in diagnosis and genetic counseling of this painless but severe genetic disorder.

Adolescent↗
PubMed1999

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups.

Base Sequence↗
PubMed1997

Gene deletions in Arab patients with spinal muscular atrophy.

Spinal muscular atrophy is an autosomal recessive disorder characterized by degeneration of lower motor neurons. We have investigated the presence of survival motor neuron gene and neuronal apoptosis inhibitory protein gene deletions in 17 Arab and 1 Indian families with spinal muscular atrophy (15 type I and 3 type II). Homologous deletions were detected in exons 7 and 8 of the survival motor neuron gene and exon 5 of the neuronal apoptosis inhibitory protein gene in all patients with type I spinal muscular atrophy. Exon 13 of the neuronal apoptosis inhibitory protein gene was deleted in only one patient with type I spinal muscular atrophy. In two patients with type II spinal muscular atrophy, only exons 7 and 8 of the survival motor neuron gene were deleted whereas exons 5 and 13 of the neuronal apoptosis inhibitory protein gene were present. In another patient with spinal muscular atrophy type II, exons 7 and 8 of the survival motor neuron gene and exon 5 of the neuronal apoptosis inhibitory protein gene were deleted. This latter patient also had the Pierre Robin syndrome. No deletion was detected in healthy siblings or the parents. The deletions found in our patients are similar to those reported in other population groups.

Apoptosis↗
PubMed1997

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

OBJECTIVES: To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients. PATIENTS: The clinical features of 23 patients (20 families) with SSADH deficiency (4-hydroxybutyric acid-uria) are presented. The age at diagnosis ranged from 3 months to 25 years in the 11 male and 12 female patients; consanguinity was noted in 39% of families. OUTCOME MEASUREMENTS: The following abnormalities were observed (frequency in 23 patients): motor delay, including fine-motor skills, 78%; language delay, 78%; hypotonia, 74%; mental delay, 74%; seizures, 48%; decreased or absent reflexes, 39%; ataxia, 30%; behavioral problems, 30%; hyperkinesis, 30%; neonatal problems, 26%; and electroencephalographic abnormalities, 26%. Associated findings included psychoses, cranial magnetic resonance or computed tomographic abnormalities, and ocular problems in 22% or less of patients. Therapy with vigabatrin proved beneficial to varying degrees in 35% of the patients. Normal early development was noted in 30% of patients. CONCLUSIONS: Our data imply that two groups of patients with SSADH deficiency exist, differentiated by the course of early development. Our recommendation would be that accurate, quantitative organic acid analysis in an appropriate specialist laboratory be requested for any patients presenting with two or more features of mental, motor, or language delay and hypotonia of unknown cause. Such analyses are the only definitive way to diagnose SSADH deficiency; the diagnosis can be confirmed by determination of enzyme activity in white cells from whole blood. We think that increased use of organic acid determination will lead to increased diagnosis of SSADH deficiency and a more accurate representation of disease frequency. As additional patients are identified, we should have a better understanding of both the metabolic and clinical profiles of SSADH deficiency.

Adolescent↗
PubMed1995

An instrument to evaluate clinical instructional skills.

A questionnaire, which consisted of 10 statements dealing with the attributes of effective clinical instruction, was designed for use by medical students. Three groups of trainees who followed consecutive clinical rotations in paediatrics assessed the instructional skills of their tutors using the instrument. Summary reports on students' perceptions were made available to the teachers soon after each rotation. The results showed that although individual instructors exhibited varying degrees of the desired skills, they maintained a consistent pattern through the assessments. When considered on an overall basis, teacher behaviours such as allowing the students to ask questions and giving satisfactory answers, and helping in students' learning problems with relevant feedback, received a higher percentage of positive ratings than emphasizing problem-solving, demonstrating and supervising physical examinations and procedures, and stimulating the students' interest in the subject. It appears that the instrument developed is suitable for obtaining feedback from the students to identify the strengths and weaknesses of the instructional skills of their clinical teachers. Such feedback would become useful when modifying programme presentation and in planning and conducting faculty development activities.

Attitude↗
PubMed1994

Improved neurological outcome in children with chronic renal disease from infancy.

Progressive encephalopathy, developmental delay, microcephaly, electroencephalogram (EEG) and computed tomographic (CT) scan abnormalities have been reported in 80% of children with chronic renal failure (CRF) in infancy. Malnutrition, aluminium intoxication and psychosocial deprivation are proposed as causes. In 15 children with CRF from infancy we evaluated the effect of no aluminium salts and early vigorous nutritional and psychosocial support, in addition to the standard therapy, on neurological development. Six patients underwent dialysis (2 at birth) and 3 received transplants. None of our patients were given aluminium therapy. The nutritional status of the patients in the first 2 years of life was assessed with the waterlow classification. At the end of the follow-up period (mean 50 months range 14-148 months), patients underwent neurodevelopmental assessment, head CT scan, EEG, nerve conduction velocity (NCV) and auditory brain stem evoked response (ABER). None of our patients developed progressive encephalopathy or recurrent seizures. All have a normal neurological examination apart from hypotonia. Microcephaly was present in 5 patients. There was a good correlation between malnutrition in the first 2 years of life and microcephaly. Developmental delay was present in 3 patients; all 3 were microcephalic. There was evidence of brain atrophy on CT scan in only 3 patients. EEG was abnormal in 6 patients, but only severe in 1 patient. Only 1 patient had diminished NCV; all patients had a normal ABER. We conclude that a policy of no oral aluminium therapy and early nutritional support leads to better neurological outcome in children with CRF from infancy.

Brain Diseases↗
PubMed1991

The practical significance of lactose maldigestion in institutionalised black children.

A study was carried out to determine the practical significance of a high prevalence of lactose maldigestion in institutionalised children whose diet included 500 ml milk daily. Thirty of 34 children at a child welfare home were found to be lactose maldigesters as judged by a 2-hour rise in breath hydrogen of 20 parts per million or more after an oral load of lactose. Breath hydrogen tests were also performed on the same group of children, before and up to 150 minutes after the routine mid-morning cup of milk. Sixteen of the 30 lactose-maldigesting children did not show increased breath hydrogen up to 2.5 hours after milk. No children were clinically intolerant of either the lactose or the milk. In these children the degree of lactose digestion was much improved in the non-fasting state when measured by the breath hydrogen response to milk lactose. Lactose maldigestion per se is not a contraindication to institutional feeding routines, including regular moderate milk intake.

Animals↗
PubMed1991

Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome?

Two siblings of consanguineous Arab parents were found to have cystic fibrosis and gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, subnormal mentality and minor anomalies. The association of H. pylori and megaloblastic anaemia has not been described in patients with cystic fibrosis. H. pylori infection and gastritis is probably more common in patients with cystic fibrosis than appreciated. We believe that the constellation of features in the two sibs represent a possible new autosomal recessive cystic fibrosis-like syndrome.

Anemia, Megaloblastic↗
PubMed1990

Lactose maldigestion--age-specific prevalence in black and Indian children.

A study was performed to determine the prevalence and age of onset of primary lactose maldigestion in healthy black and Indian children, and to determine whether this was of clinical significance. More black (22 of 44-50%) than Indian children (10 of 45-22.2%) had lactose maldigestion (P less than 0.02), the development of which was age-related and occurred earlier in blacks than in Indians; 6 of 19 black children less than 5 years old (31.6%) were lactose maldigesters, compared with 8 of 10 (80%) over 10 years old, while only 1 of 16 Indian children aged under 8 years (6.3%) were maldigesters, compared with 5 of 13 (38.5%) aged over 10 years. Most children had a very low intake of milk and lactose maldigestion was of no clinical significance to them.

Age Factors↗