ABSTRACT
Hyperkalemia is a life threatening electrolyte imbalance that may be fatal if not treated appropriately. There are multiple medications used to treat hyperkalemia to lower it to a safe level. We report a case of a 4-month old infant with Pseudohypoaldosteronism who had cardiac arrest secondary to severe hyperkalemia of 12.3mmol/l. It was refractory to anti hyperkalemic medications that necessitated the transfer of the patient to a tertiary hospital for dialysis. The potassium level has dropped gradually to a normal level with continuous insulin infusion and dextrose for almost 12 hours that waved the need of the dialysis. This case highlights the effectiveness of prolonged continuous insulin infusion in treating life-threatening hyperkalemia especially in hospitals where there are no dialysis services available or until the dialysis is initiated.
ABSTRACT
BACKGROUND: The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. OBJECTIVE: To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods. MATERIALS AND METHODS: Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes (P095-A2). For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR (QF-PCR) and routine chromosomal culture method. RESULTS: Using this specific MLPA technique and data-analyzing software (Genemarker v1.85), one case was diagnosed with 45, X (e.g. Monosomy X or Turner's Syndrome), and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings. CONCLUSION: The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity.
ABSTRACT
A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just losing the telomeric portion (3p-25.3) of the short arm of one of her chromosomes 3. Her karyotype was 46, XX, t(2;18) (p12;q12.1), del(3) (p23p26), t(3;9;15; 20) (q13;p23;q12; p12). Her parents showed a normal karyotype pattern.
