Prenatal diagnosis of spinal muscular atrophy in Turkish families

Prenatal diagnosis of childhood proximal spinal muscular atrophy (SMA) is carried out by the detection of homozygous deletions of survival motor neuron (SMN; exons 7 and 8) and neuronal apoptosis inhibitory protein (NAIP; exons 5 and 6) genes located in 5q13 chromosomal region. In Hacettepe University, Department of Medical Biology, 203 postnatal molecular diagnoses of SMA have been carried out since October 1994 and prenatal diagnosis in subsequent pregnancies to couples who previously had an affected child became possible. Between January 1996 and December 1999 totally 41 SMA families were analyzed by detecting homozygous deletions of SMN and NAIP genes for prenatal counseling. Fetal DNAs were obtained from amniotic fluid and chorionic villus samples. 8/41 (20%) fetal samples were found to be affected and these pregnancies were terminated. It was interesting to find that 2 fetuses had only SMN deletions, however their affected siblings had both SMN and NAIP gene deletions.     

The assessment of constipation in monosymptomatic primary nocturnal enuresis

Objective: Nocturnal enuresis and constipation are common pediatric problems. The aim of this study was to assess the incidence of constipation in children with or without monosymptomatic primary nocturnal enuresis.Methods: The study included 5350 children, ages 5–19 years, who were surveyed to detect the incidence of nocturnal enuresis. Of those surveyed, 679 (12.7%) had primary nocturnal enuresis. All children were questioned by mail with a standard form that addressed their micturition and defecation habits. The children those who had primary nocturnal enuresis were invited to the Pediatric Urology Section of the University Hospital. Of those 679 children, 125 kept that invitation. All 125 of those children underwent an abdominal ultrasound. Also, these children had serum creatinine levels drawn and plain abdominal films taken.Results: Constipation, defined as less than 3 bowel movements per week, was seen in 48 of 679 children with nocturnal enuresis (7.06%). Of those 4671 children without nocturnal enuresis, only 68 (1.45%) had constipation. The difference in constipation between the two groups was statistically significant (z = –9.251; p = 0.000). Of note, 10 of the 125 children (8%), evaluated at the hospital, had constipation. None of the children had an abnormal neurologic examination. Finally, faecal loading was detected on the plain films of 8 of the 125 children evaluated, 7 of who had constipation. The sensitivity of grading plain films for faecal loading to denote constipation in this population was 87.5%.Conclusions: Children with primary nocturnal enuresis should be thoroughly assessed for coexisting constipation.     

Ondansetron versus diclofenac sodium in the treatment of acute ureteral colic: A double blind controlled trial

The aim of this study is to compare the effectiveness of the 5-HT₃ antagonist, ondansetron and a non-steroidal anti-inflammatory agent, diclofenac sodium, as a pain reliever in the treatment of acute ureteral colic. Sixty four patients with severe or moderate pain who were clinically diagnosed as having ureteral colic associated with microscopic or gross hematuria were included in the study. Thirty three patients were administered ondansetron and 31 patients were administered diclofenac sodium. Exclusion critera were known kidney or liver disease causing dysfunction, known hypersensitivity to ondansetron or diclofenac sodium, pregnancy, lactation, duodenal ulcer or bleeding. After pain assessment with a verbal scale and a visual analog scale (VAS), we randomized patients and administered 8 mg ondansetron intravenously to 33 patients and 75 mg diclofenac sodium intramuscularly to 31 patients and pain scores were recorded every 15 minutes. If significant pain relief was not achieved within 60 minutes, IV meperidine was given as rescue pain medication. Ondansetron was effective as a primary pain reliever in 14 (42.4%) patients, whereas 19 patients required additional medication. Diclofenac sodium was effective as a primary pain reliever in 24 (77.4%) patients, whereas 7 patients required additional medication. Ondansetron was not superior to diclofenac sodium in relieving pain in patients with acute ureteral colic.     

Immunogenicity and efficacy of one dose measles-mumps-rubella (MMR) vaccine at twelve months of age as compared to monovalent measles vaccination at nine months followed by MMR revaccination at fifteen months of age

BACKGROUND AND METHODS: measles is a common cause of morbidity and mortality in developing countries. Although the measles-mumps-rubella vaccine (MMR) is currently in use in developed countries, monovalent measles vaccine (MV) is routinely recommended by World Health Organization (WHO) at 9 months of age in Turkey, as in many other developing countries. In this study, 442 Turkish children received MV at 9 months of age and were revaccinated with MMR vaccine at 15 months of age. In the second group 495 children received MMR at 12 months of age with no earlier measles vaccination. Antibodies were measured before the first vaccination and 6 weeks after the MMR. All children had been followed for occurrence of measles infection for 60 months. Two vaccination schedules were compared for immunogenicity and protection rates. CONCLUSIONS: seroconversion and clinical protection rates were significantly higher in children who received only MMR at 12 months of age than in children revaccinated at 15 months of age. Seroconversion rate for measles was 69.9% in children who received MMR at 12 months of age and 90.3% in children revaccinated at 15 months of age (P=0.0003). While there was no measles case in children who were revaccinated, 12 (2.7%) children in the first group acquired measles during the follow-up period. Vaccination at 12 months of age appeared to be better than the current national standard. The late elimination of maternal antibodies and the inhibitory effect of a weak antibody response after the first dose of vaccine at 9 months may explain the better immunogenicity and efficacy of the MMR vaccine given at 12 months of age.     

Certain effects of adenoidectomy on eustachian tube ventilatory function.

In an effort to develop a simple and accurate method to identify children in whom adenoidectomy might prevent otitis media, the ventilatory function of the Eustachian tube was assessed by a manometric technique. Nasal pressures during swallowing were also determined in some. The study group consisted of 23 children with otitis media in whom tympanostomy tubes had been inserted. All were judged clinically and roentgenographically to have prominent adenoids. Inflation-deflation Eustachian tube ventilation studies were obtained in 36 ears that remained intubated, aerated and dry both before and eight weeks after adenoidectomy. Fifteen of the 36 (42 percent) ears had improvement in Eustachian tube ventilatory function postadenoidectomy which was attributed to relief of extrinsic mechanical obstruction of the tube. In the remaining 21 (58 percent) ears in which Eustachian tube function was not improved, mechanical obstruction was not apparent preoperatively. The effect of nasopharyngeal pressures on a pliant Eustachian tube (Toynbee phenomenon) due to obstruction of the posterior nasal choanae by the adenoid mass was suggested as a possible cause of functional Eustachian tube obstruction. In several instances in which preadenoidectomy mechanical obstruction of the Eustachian tube was not demonstrated, the tube appeared to have been made more pliant by the operation. This increase in compliance of the Eustachian tube was attributed to loss of adenoid support of the tube in the fossa of Rosenmuller. From this study, preliminary recommendations for selection of patients for adenoidectomy are the following: 1. Eustachian tube ventilation function tests in a dry, intubated middle ear; 2. if extrinsic mechanical obstruction of the Eustachian tube is present and chronic inflammation is absent, adenoidectomy will probably improve Eustachian tube function. The surgical technique should include adequate removal of the adenoid tissue in the fossa of Rosenmuller; 3. if the Eustachian tube does not appear to be mechanically obstructed, the adenoids should not be removed unless functional obstruction is suspected due to obstruction of the posterior nasal choanae. Adenoid tissue within the fossa of Rosenmuller should not be removed when such circumstances exist; and 4. in the absence of obstructive adenoids to the nasal choanae or Eustachian tube, adenoidectomy probably will not improve Eustachian tube function and could make it worse. A more rational and effective approach to adenoidectomy for the prevention of otitis media in children may be possible through this type of preoperative evaluation.     

Ulnar artery aneurysm in a patient with Behçet’s disease

Behçet’s disease is a systemic disease characterized by oral aphthosis, genital ulcers, ocular lesions, gastrointestinal, musculoskeletal, neurological and major vessel involvement. Arterial involvement, aneurysms and arterial thrombosis have been reported in 1.5–3% of patients. In this case report, we present a patient with ulnar arterial aneurysm associated with Behçet’s disease.     

Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1 (hOCT1/SLC22A1)

Ann. Hum. Genet . (1999), 63 , 473–482
Correction
The authors wish to add the following correction to this paper:
The genomic organization of the human organic cation transporter (hOCT1/SLC22A1) has recently been described by us to consist of 7 exons [Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1( hOCT1 / SLC22A1 ); Ann. Hum. Genet . 63 : 473–482]. A reexamination revealed 11 exons instead of 7. The mistake occurred through cDNA contamination. The corrected gene structure of the hOCT1 gene is available at EMBL under the following accession numbers:
AJ243995 (Exon 1), AJ243996 (Exon 2), AJ276051 (Exon 3), AJ276052 (Exon 4), AJ276053 (Exon 5 and 6), AJ245460 (Exon 7), AJ243998 (Exon 8), AJ243999 (Exon 9 and 10) and AJ244000 (Exon 11).