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Biomedical subjects

Waleed A Al-Busairi

Publications and source records attributed to Waleed A Al-Busairi.

5 recordsLinked to original sources

Cervical spine abnormalities associated with Down syndrome.

Atlantoaxial instability (AAI) affects 10-20% of individuals with Down syndrome (DS). The condition is mostly asymptomatic and diagnosed on radiography by an enlarged anterior atlanto-odontoid distance. Symptomatic AAI, which affects 1-2% of individuals with DS, manifests with spinal cord compression. Cervical spondylosis, which is common in DS, also has the potential for cord damage but it has received less attention because paediatric populations were mostly studied. Forty-four Kuwaiti subjects with DS, whose ages were > or = 15 years, were evaluated clinically and radiographically. Lateral neck radiographs were taken in the neutral and flexion positions. Asymptomatic AAI was diagnosed in eight subjects (18%) and congenital anomalies of C1-2 were found in five (12%). Five patients had AAI in flexion only while three patients had it in both views. Three patients with AAI had odontoid anomalies contributing to the condition. When assessing AAI, the posterior atlanto-odontoid distance has to be considered because it indicates the space available for the cord. Cervical spondylosis was noted in 16 (36%) subjects. Degenerative changes increased with age, occurred earlier than in the normal population, and affected mostly the lower cervical levels. Half the patients with AAI had cervical spondylosis, a comorbidity that puts the cord at increased risk.

Adolescent↗

Loss of seizure control due to anticonvulsant-induced hypocalcemia.

OBJECTIVE: To report a case of loss of seizure control due to hypocalcemia resulting from long-term treatment with phenytoin and phenobarbital. CASE SUMMARY: A 32-year-old mentally retarded man presented with a 12-month history of loss of seizure control, after being seizure-free for 5 years on a fixed regimen of phenobarbital and phenytoin. He had been institutionalized at the age of 10 years and had received anticonvulsant drugs since he was diagnosed with tonic-clonic epilepsy 20 years ago. On investigation, serum concentrations of the anticonvulsant drugs were within the therapeutic range, indicating adequate medication dosages. Serum biochemistry was consistent with vitamin D deficiency: hypocalcemia, reduced 25-hydroxyvitamin D, increased alkaline phosphatase, and increased parathormone. Seizure control was regained after serum calcium had been normalized with administration of vitamin D and calcium. DISCUSSION: Antiepileptic drugs (AEDs) cause vitamin D deficiency through induction of hepatic microsomal enzymes that metabolize vitamin D. Institutionalized subjects are more vulnerable because of the added factors of multidrug therapy, poor diet, reduced exposure to sunlight, and physical inactivity. The resulting hypocalcemia can cause reactive seizures, thus offsetting the anticonvulsant action of the drugs. An objective causality assessment revealed that the adverse reactions of both phenobarbital and phenytoin were probable. CONCLUSIONS: Hypocalcemic seizures are uncommon and underdiagnosed complications of long-term therapy with AEDs. Loss of seizure control in a patient stabilized on AEDs is an indication to check the patient's calcium status. Proper treatment of this complication is vitamin D and calcium supplementation. Prophylactic supplementation with vitamin D is necessary in institutionalized patients treated with AEDs.

Adult↗

Chronic perforation of the sigmoid colon by foreign body.

Colorectal foreign bodies (FBs) may be ingested or introduced transanally and then migrate proximally. Without a reliable history, it may be impossible to determine which way a certain colorectal FB gained access. We present a case of a nonverbal mentally retarded boy with a flat piece of plastic impacted in the sigmoid colon, the colonoscopic extraction of which failed. He underwent laparotomy more than a year later to remove the FB, where chronic perforation of the sigmoid colon was discovered. The perforation was sealed with extensive adhesions to the pelvic wall, and histologically, the colon showed a chronic granulomatous reaction. We discuss the types, presentations, and diagnosis of intestinal perforation with FBs. Chronic perforation may present with radiologic and pathologic features that suggest inflammatory bowel disease.

Adolescent↗

Thyroid function in Kuwaiti subjects with Down's syndrome.

OBJECTIVE: To investigate the thyroid function of individuals with Down's syndrome (DS). METHODS: Thyroid function and antithyroid antibodies were measured in 58 Kuwaitis with DS who resided at a residential facility or attended rehabilitation centers. RESULTS: Twenty-six subjects (45%) were euthyroid and 32 (55%) had thyroid dysfunction. One patient had previously been diagnosed with thyroid failure whereas the other 31 patients had newly discovered disease: 9 patients had primary hypothyroidism (T(4) 9.95 +/- 1.1 pmol/l and TSH 15.15 +/- 11.93 mU/l), 19 subclinical hypothyroidism (TSH 6.47 +/- 2.57 mU/l), 1 secondary hypothyroidism, 1 hyperthyroidism, and the remaining 1 subclinical hyperthyroidism. Antithyroid antibodies were found in 52% of the total subjects and in 59% of those with thyroid dysfunction. CONCLUSIONS: Thyroid dysfunction is common in Kuwaiti subjects with DS and is presumably the consequence of autoimmune thyroid disease. Periodic thyroid function testing is recommended in individuals with DS, which is best done through a national program.

Adolescent↗