Four patients are reported in whom perforation of the colon followed exchange transfusion for haemolytic disease of the newborn. This association seems to be more than coincidental, and possibly the perforation is due to a vascular accident occurring as a mechanical result of the exchange transfusion. The insidious onset of colonic perforation may be recognized early by the passage of blood per rectum. There is no place for conservative treatment, and once the diagnosis has been made treatment must include broad-spectrum antibiotics and laparotomy.

Anti-Bacterial Agents↗

PubMedDate not supplied

Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of lower motor neurons. We have assayed deletions in two candidate genes, the survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes, in 108 samples, of which 46 were from SMA patients, and 62 were from unaffected subjects. The SMA patients included 3 from Bahrain, 9 from South Africa, 2 from India, 5 from Oman, 1 from Saudi Arabia, and 26 from Kuwait. SMN gene exons 7 and 8 were deleted in all type I SMA patients. NAIP gene exons 5 and 6 were deleted in 22 of 23 type I SMA patients. SMN gene exon 7 was deleted in all type II SMA patients while exon 8 was deleted in 19 of 21 type II patients. In 1 type II SMA patient, both centromeric and telomeric copies of SMN exon 8 were deleted. NAIP gene exons 5 and 6 were deleted in only 1 type II SMA patient. In 1 of the 2 type III SMA patients, SMN gene exons 7 and 8 were deleted with no deletion in the NAIP gene, while in the second patient, deletions were detected in both SMN and NAIP genes. None of the 62 unaffected subjects had deletions in either the SMN or NAIP gene. The incidence of biallelic polymorphism in SMN gene exon 7 (BsmAI) was found to be similar (97%) to that (98%) reported in a Spanish population but was significantly different from that reported from Taiwan (0%). The incidence of a second polymorphism in SMN gene exon 8 (presence of the sequence ATGGCCT) was markedly different in our population (97%) and those reported from Spain (50%) and Taiwan (0%).

Age of Onset↗

PubMedDate not supplied

Screening 25 dystrophin gene exons for deletions in Arab children with Duchenne muscular dystrophy.

Forty-two Arab children with Duchenne muscular dystrophy (DMD) were studied for intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets each amplifying a total of 9, 9 and 6 different exons, respectively. Exon 22 was amplified individually. Deletions were found in 78, 76 and 12% of DMD patients with each of the three sets, respectively. With all the three sets, the detection rate increased to 86% (36 of 42 patients). Fifty percent of the deleted exons were located in the distal hot spot, 8% in the proximal hot spot while 42% were scattered over both. This study, the first in an Arab population and only the second to use three PCR multiplex sets, documents one of the highest deletion detection rates in DMD.

Arabs↗

PubMedDate not supplied

Multi-minicore disease: a report of 5 patients from Kuwait.

OBJECTIVE: To describe the characteristic clinical features and the diagnostic findings in muscle histochemistry of multi-minicore disease in 5 children from two unrelated families in Kuwait. CLINICAL PRESENTATION: The 5 children who presented with muscle weakness, 2 siblings from family 1 and the remaining 3 from the other (family 2), represent the classical type of multi-minicore disease; however, the two families differ in the course of the disease. Family 1 had the non-progressive form while family 2 had progressive weakness with respiratory complications and scoliosis. The diagnosis was confirmed in the index patients by muscle histochemistry, which demonstrated the typical minicores, which are devoid of oxidative enzyme activity. CONCLUSION: Both families represent the classical form, however, clinical variability in the course of the illness was demonstrated in these two families.

Child↗