Biomedical subjects

S Verhaart

Publications and source records attributed to S Verhaart.

6 recordsLinked to original sources

PubMed1999

Different molecular basis for spinal muscular atrophy in South African black patients.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder occurring at a rate of between 1/5,000 and 1/10,000 births in most European countries. The phenotype results from the degeneration of the anterior horn cells of the spinal cord, resulting in symmetrical muscle weakness and wasting. The disorder can be classified according to the severity of the disease and the age of onset into three major types. Two candidate SMA genes, NAIP and SMN, isolated from the 5q13 region, have been reported to be homozygously deleted in approximately 30% and >95% of SMA patients, respectively. Black SMA patients have been reported to have facial muscle weakness more commonly. This study aimed to determine the molecular basis of SMA in South African black SMA patients. The SMN gene was found to be homozygously deleted in 65.5% (19/29) of patients, significantly less frequently than in previous studies. Similarly, the NAIP gene was homozygously deleted in a smaller number, 14% (4/29) of patients; 47% (9/19) of SMN deletion patients appeared to have deletions of telomeric exon 7, but not exon 8. In at least six of these patients a gene conversion event has occurred. No detectable deletions were found in 35% (10/29) of patients. Haplotype analysis in the nondeletion patients, using six closely linked markers, provided no evidence for a founder mutation. No mutations were found in exons 3 and intron 6 through exon 8 by sequence analysis of these nondeletion patients. It is proposed that the differences in the SMA phenotype observed in black patients may in part be explained by a different molecular basis.

Black People↗

PubMed1999

Pulse cyclophosphamide for steroid-resistant focal segmental glomerulosclerosis.

We report the response of ten patients (6 male, 4 female) with steroid-resistant focal segmental glomerulosclerosis (FSGS) to treatment with intravenous pulse cyclophosphamide (IVCP) together with oral prednisone. All patients had been treated with 60 mg/m2 oral prednisone daily for 2 months upon initial presentation. IVCP was given monthly at a dose of 500 mg/m2 over 6 months. Oral prednisone was given concurrently at 60 mg/m2 daily for 2 months and then on alternate days for 4 months, followed by 30 mg/m2 on alternate days for 6 months. Prednisone was then tapered monthly by 10 mg and finally discontinued. Five patients failed to respond to steroids from the onset and were considered as primary steroid resistant. Two of these patients achieved sustained remission after IVCP, one patient showed a partial response, with loss of edema, normalization of serum albumin, and persistent proteinuria, while two patients showed no response to IVCP. The other five patients had achieved remission after 2 months of daily prednisone at 60 mg/m2 upon initial presentation, but had suffered from more than three relapses per year and had eventually become steroid resistant. They were considered secondary steroid resistant. All five patients achieved sustained remission after IVCP. None of our patients suffered from adverse effects of IVCP. We suggest IVCP as an adjunctive therapy for steroid-resistant FSGS, particularly for patients with secondary steroid resistance.

Adolescent↗

PubMed1999

Massive true thymic hyperplasia.

A case of massive true thymic hyperplasia in a child of eleven months is described. This rare disorder must be included in the differential diagnosis of a mediastinal mass in children. Diagnosis and management are discussed and the relevant literature is reviewed.

Diagnosis, Differential↗

PubMed1998

Atresia of the appendix.

A 4-day-old black male underwent laparotomy for intestinal obstruction. At surgery, multiple jejunal atresias (type IV) of the jejunum were detected. As an incidental finding, atresia of the appendix was also present. The jejunal atresia was repaired, and resection of the tip of the cecal pole and atretic appendix was performed. Gross and histological examination confirmed the presence of a type IV atresia of the jejunum and a cordlike (type II) atresia of the appendix with inflammatory changes in the tip of the appendix. The boy made an uneventful recovery. Examination of all organ systems did not show any associated findings, and the family history was unremarkable. To our best knowledge, this case represents the first case of atresia of the appendix described in the literature.

Appendix↗

PubMed1995

Hereditary interstitial nephritis without basement membrane changes.

Hereditary interstitial nephritides are a heterogeneous group of disorders comprising medullary cystic disease, several varieties of Alport's syndrome and also one familial disorder with a distinct clinical syndrome and without characteristic ultrastructural glomerular basement membrane changes. Our family consisted of 11 members, 5 of which presented with renal dysfunction of varying degrees. Clinically, the affected siblings presented with long-standing hypertension, minimal proteinuria and no hematuria. All known causes of a secondary diffuse interstitial nephritis, Alport's syndrome and medullary cystic disease have been excluded. An HLA association is suggested between the affected and unaffected members of the family. Renal biopsy subsequently showed the typical features of a chronic interstitial nephritis without basement membrane changes.

Adult↗

PubMed1987

Squamous cell carcinoma with anemone cell features.

A tumor from a 52-year-old Albino male had the ultrastructural features of an anemone cell tumor. Evidence of squamous differentiation was seen by electron microscopy and immunohistochemistry. "Anemone cell" tumors have been shown to be classifiable as either carcinomas or lymphomas; the term therefore does not describe a discrete entity or constitute a definitive diagnosis. Treatment with radiotherapy was successful in this case, while chemotherapy appeared to have little effect.

Carcinoma, Squamous Cell↗