SOFT syndrome with kohlschutter-Tonz syndrome.

We report a 2.2 year-old-boy, born of consanguineous marriage, referred for short stature, with history of neonatal death and skeletal deformities in his older sibling. Rhizo-mesomelic dwarfism was detected antenatally. Within 24 hours of birth, he developed multiple seizures. Examination revealed severe short stature, dolichocephaly, broad forehead, deep set eyes, low set ears, bulbous nose, small, irregular teeth, pointed chin, and triangular facies. He had rhizomelic shortening, stubby fingers, pes planus, and scanty hair. Neurological evaluation revealed ataxia, hypotonia, and global developmental delay. Skeletal survey radiograph revealed shallow acetabuli, short femurs and humerus, short, broad metacarpals and short cone-shaped phalanges with cupping of phalangeal bases. Clinical exome analysis revealed homozygous mutations involving the POC1A gene and the SLC13A5 gene responsible for SOFT syndrome and Kohlschutter-Tonz syndrome respectively, which were inherited from the parents. Both these syndromes are extremely rare, and their co-occurrence is being reported for the first time.

A pilot randomized controlled trial of oral calcium and vitamin D supplementation using fortified laddoos in underprivileged Indian toddlers.

BACKGROUND/OBJECTIVES: Low habitual dietary calcium intake and vitamin D deficiency are common among Indian children. Using 'laddoo', an Indian snack, as a vehicle for administering calcium and vitamin D supplements, a randomized double-blind controlled trial was conducted for 12 months to assess its efficacy on total body less head (TBLH) bone mineral content (BMC) in underprivileged toddlers. SUBJECTS/METHODS: A total of 60 toddlers (mean age 2.7±0.52 years, boys=31) were randomized to two groups, (i) study group receiving one calcium fortified laddoo (cereal-legume snack) containing 405 mg calcium per day and (ii) control receiving a non-fortified laddoo, containing 156 mg of indigenous calcium. Both groups also received a laddoo fortified with 30,000 IU of vitamin D(3) per month. Outcome measures included TBLH bone area (BA) and TBLH BMC by GE-Lunar DPX Pro Pencil Beam Dual-Energy X-ray absorptiometry. RESULTS: At baseline, mean energy, protein and calcium intakes were 71, 72 and 47% of Indian Recommended Dietary allowances. In all, 87 and 83% toddlers were hypocalcaemia and vitamin D deficient, respectively. Mean TBLH BMC was 289.5±45.8 g. Post supplementation, mean TBLH BMC of study group showed a significantly greater (P<0.01) increase of 35% as against 28% in controls and the difference remained significant after adjusting for vitamin D status, calcium intake, height and TBLH BA. CONCLUSIONS: Daily supplementation with calcium fortified laddoo, and monthly vitamin D supplement resulted in a significant increase in TBLH BMC of underprivileged toddlers. We believe that such strategies have the potential of addressing nutritional problems in developing countries.

Oral calcium supplementation reverses the biochemical pattern of parathyroid hormone resistance in underprivileged Indian toddlers.

BACKGROUND: Toddlers in Pune, India, accustomed to low dietary calcium intake but vitamin D replete have low serum ionised calcium and inappropriately raised serum inorganic phosphorus concentrations together with elevated serum parathyroid hormone (PTH) concentrations. We hypothesised that dietary calcium deficiency leads to end organ resistance to PTH, thus resulting in mild hypocalcaemia and hyperphosphataemia, and that this would be reversed by oral calcium supplementation. METHODS: 51 subjects (25 male; mean (SD) age 2.4 (0.8) years) from an urban slum in Pune were randomised to 500 mg of oral calcium supplement or placebo, daily, for 8 weeks. All subjects received 20 mg of oral elemental iron, daily, as 90% had a serum ferritin concentration <12 microg/l. All subjects were examined for clinical stigmata of rickets and had a wrist radiograph performed. Serum concentrations of ionised calcium, phosphorus, PTH and fibroblast growth factor-23 (FGF-23) were measured at the start and end of the trial. RESULTS: No subject had clinical or radiological evidence of rickets. There was a significant increase in mean serum ionised calcium concentration (p<0.001) in the supplemented but not the placebo group (p = 0.32). The decrease in mean serum phosphorus concentration in the supplemented group was greater (p<0.001) than in the placebo group (p = 0.003). Mean serum PTH fell in the calcium supplemented (p = 0.001) but not in the placebo (p = 0.303) group. The mean serum FGF-23 concentration did not change in response to calcium supplementation. CONCLUSIONS: From these data the authors conclude that low dietary calcium intake is associated with resistance to PTH.

Transcutaneous electrical nerve stimulation (TENS) for chronic low-back pain.

BACKGROUND: Chronic low-back pain (LBP) affects a significant proportion of the population. Transcutaneous electrical nerve stimulation (TENS) was introduced more than 30 years ago as an adjunct to the pharmacological management of pain. However, despite its widespread use, the usefulness of TENS in chronic LBP is still controversial. OBJECTIVES: The aim of this systematic review was to determine the effectiveness of TENS in the management of chronic LBP. SEARCH STRATEGY: We searched the Cochrane Central Register of Controlled Trials (Issue 2, 2005), MEDLINE, EMBASE and PEDro up to April 1, 2005. SELECTION CRITERIA: Only randomized controlled clinical trials (RCTs) evaluating the effect of TENS on chronic LBP were included. Abstracts were excluded unless further data could be obtained from the authors. DATA COLLECTION AND ANALYSIS: Two reviewers independently selected trials and extracted data using predetermined forms. Heterogeneity was tested with Cochrane's Q test. A fixed effect model was used throughout for calculating continuous variables, except where heterogeneity existed, in which case, a random effects model was used. Results are presented as weighted mean differences (WMD) with 95% confidence intervals (95% CI), where the difference between the treated and control groups was weighted by the inverse of the variance. Standardized mean differences (SMD) were calculated by dividing the difference between the treated and control by the baseline variance. SMD were used when different scales were used to measure the same concept. Dichotomous outcomes were analyzed with odds ratios. MAIN RESULTS: The only two RCTs (175 patients) meeting eligibility criteria differed in study design, methodological quality, inclusion and exclusion criteria, type and method of TENS application, treatment schedule, co-interventions and final outcomes. In one RCT, TENS produced significantly greater pain relief than the placebo control. However, in the other RCT, no statistically significant differences between treatment and control groups were shown for multiple outcome measures. Pre-planned subgroup analyses, intended to examine the impact of different stimulation parameters, sites of TENS application, treatment durations and baseline patient characteristics were not possible due to the small number of included trials. AUTHORS' CONCLUSIONS: There is inconsistent evidence to support the use of TENS as a single treatment in the management of chronic LBP. Larger, multi-center, randomized controlled trials are needed to better assess the true effectiveness of TENS. Special attention should be given to the risks and benefits of long-term use, which more appropriately addresses the realities of managing chronic low-back pain.