A Case of Renal Tubular Acidosis with Sjogren's Syndrome Showing Paradoxical Block of PTH Due to Severe Hypomagnesemia.

Distal renal tubular acidosis (RTA) manifests either as Complete/Classical form or Incomplete/Latent Form. Distal RTA causes normal anion gap metabolic acidosis and hypokalemia. Interstitial Nephritis is the most frequent renal manifestation of Sjogren's, which presents as Distal RTA in 25-40% of patients with Sjogren's syndrome. Magnesium deficiency is frequently associated with hypokalemia. Although serum calcium is the main physiological control for the secretion of parathyroid hormone (PTH) by the parathyroid, serum magnesium can also exert similar effects. While low levels of magnesium stimulate the secretion of PTH, very low serum concentrations tend to induce a paradoxical block of PTH release by activation of the alpha-subunits of heterotrimeric G-proteins. This mimicks the activation of calcium sensing receptor leading to inhibition of PTH secretion. Here we describe the case history of a 35-year-old lady who presented to our hospital with severe hypokalemia due to distal RTA and perhaps had a paradoxical block of PTH secretion in the setting of severe hypomagnesemia.

Pharyngeal stimulus-induced reflexes are impaired in infants with perinatal asphyxia: Does maturation modify?

BACKGROUND: Development of pharyngo-esophageal protective reflexes among infants with hypoxic ischemic encephalopathy (HIE) is unclear. Our aim was to distinguish these reflexes from controls and examine the maturational changes in HIE infants. METHODS: We evaluated 14 HIE infants (seven males) at 41.4±0.6 (HIE Time-1) and 46.5±0.6 (HIE Time-2) weeks postmenstrual age (PMA). Seven controls (three males) were evaluated at 43.5±1.3 weeks PMA. Graded pharyngeal stimulation with liquids (0.1, 0.3, 0.5 mL in triplicate) concurrent with high-resolution manometry was used to analyze sensory-motor components of pharyngeal reflexive swallowing (PRS), upper esophageal sphincter (UES), contractile reflex (PUCR), and esophageal body characteristics. Linear mixed and generalized estimating equation models were used for comparison among groups. KEY RESULTS: Compared to controls, HIE infants (Time-1 and Time-2) exhibited decreased number of pharyngeal peaks and latency to terminal swallow. HIE Time-1 infants showed increased UES resting tone and distal latency, compared to controls and HIE Time-2. Contractile vigor was increasingly abnormal during maturation, compared to healthy controls. Threshold volumes and frequency distribution of primary responses (PRS: PUCR: None) were not significant among all groups. CONCLUSIONS & INFERENCES: Compared to controls, HIE infants display significant hypertonicity of skeletal muscle components, impairment of pharyngeal provocation-induced reflexes and smooth muscle contractile vigor, reflecting poor propagation with maturation. These mechanisms may be responsible for inadequate clearance of secretions, ascending refluxate, and oropharyngeal bolus in HIE infants.

Molecular study and genotype/phenotype correlation of ß Thalassemia in Malaysia.

INTRODUCTION: To study the ß-gene mutations spectrum, the genotype/phenotype correlation, the modulatory effect of co-inherited factors such as α-gene mutations and of Xmn1 polymorphism in a large cohort of Malaysian patients. METHODS: A total of 264 cases clinically diagnosed as Thalassemia major (TM) (111), Thalassemia intermedia (21), HbE-ß Thalassemia (131), and 1 HbE homozygous were studied. The detection of α and ß gene mutations and characterization of Xmn1 polymorphism were performed by multiplex PCR, amplification refractory mutation system (ARMS), DNA sequencing, and restriction fragment length polymorphism (RFLP)-PCR. RESULTS: A total of 19 ß Thalassemia mutations were characterized. CD26 and CD41/42 were the most common found in the Malay and Chinese population, respectively. The sensitivity of the clinical diagnosis for ß TM, thalassemia intermedia, and HbE/ß thalassemia was 94.0%, 15.2%, and 89.2%, respectively. Patients with Xmn1 heterozygosity [+/-] required less frequent transfusion compared with those without the polymorphism. Co-inheritance of α-thalassemia alleviates the severity of HbE-ß thalassemia in our cohort. CONCLUSION: Molecular analysis should be used for a better diagnosis and management of ß thalassemia.