A clinical study of patients with genetically confirmed Huntington's disease from India

Background: Clinical data across the globe especially in genetic diseases like Huntington's disease (HD) is most helpful when collected using standardized formats. This helps in proper comparison of clinical and genetic data. Methods: Herein, we report clinical data on 26 genetically confirmed HD patients from 19 Indian families predominantly from South India. Clinical data and evaluation was performed using standardized formats used by the Huntington Disease Study Group. Results: Adult onset HD was commonest while Juvenile HD (onset <20 years) was observed in 15% of patients. Chorea was the commonest presenting symptom (n=23, 88.5%) while remaining presented with psychiatric symptoms (n=3, 11.5%). Impairment of saccades was observed in 75% of patients. Mean (SD) CAG repeats in the abnormal allele was 48.4 (8.7). Total motor score but not the total behavioral score worsens with duration of symptoms. The functional checklist score correlates with total motor score rather than with duration of symptoms. Conclusions: We detail clinical characteristics in genetically confirmed HD patients from a predominantly South Indian cohort. We observed a slightly higher occurrence of Juvenile HD. Functional disabilities in our patients correlate with worsening of motor rather than behavioral symptoms.     

Effect of clot formation and retraction on spin-echo MR images of blood: an in vitro study

Phantoms were constructed that contained red blood cell (RBC)-free clots in varying stages of clot retraction. MR images of these samples were compared with those of retracted whole venous blood clots and a fresh rat brain standard. Images were obtained at 0.3 T, 0.5 T, 1.0 T, 1.5 T, and 2.4 T with T1-, spin-density- and T2-weighted spin-echo pulse sequences. The presence or absence of venous blood cells in the clot caused only minor differences in T2- and spin-density-weighted images of the clots at or below 1.5 T. On T2-weighted scans, the retraction of the RBC-free clot resulted in a progressive decrease in signal intensity at 2.4 T. Fully retracted RBC-free clots were markedly hypointense relative to serum and ranged from slightly hyperintense to isointense with brain and venous clots at 0.5-1.5 T. There were no striking concomitant signal intensity changes on the spin-density- or T1-weighted scans, which could have caused the changes seen on the T2-weighted images of the clots. Our results indicate that the physical basis of these MR effects in the RBC-free clots is the concentration of plasma protein. The combined concentration of plasma protein and the tightly packed RBC proteins in the venous clots causes the strikingly similar MR appearance of venous and RBC-free clots on clinical images. These results do not demonstrate the presence of the previously postulated selective T2 relaxation of intracellular paramagnetic deoxyhemoglobin in these in vitro venous clots.     

Effects of total parenteral nutrition on rat enteric nervous system, intestinal morphology, and motility

Total parenteral nutrition (TPN) is often crucial for patients not being able to feed enterally or having intestinal absorptive deficits. Enteral nutrition is, however, frequently regarded vital for maintaining functional and structural intestinal integrity. The aim of this study was to investigate possible effects of TPN on rat distal small intestine compared to enterally fed identically housed controls, regarding the enteric nervous system (ENS), motility in vitro, and morphology. This study shows that motor responses evoked by electrical stimulation or exposure to vasoactive intestinal peptide (VIP), pituitary adenylate cyclase activating peptide-27 (PACAP-27), and nitric oxide (NO) donor were unchanged. By using immunohistochemistry, the numbers of submucous (P < 0.05) and myenteric (P < 0.05) nerve cells were found to increase, expressed as numbers per unit length. The percentage of neurons expressing VIP, PACAP-27, NO-synthase, and galanin remained unchanged, however. By in situ hybridization the number of submucous neurons expressing neuropeptide Y-mRNA was found to decrease (P < 0.05); the other populations were unaltered. Morphometry revealed an increased submucosal thickness (P < 0.05), while intestinal circumference markedly decreased (P < 0.0001) in TPN-treated rats. In conclusion, TPN treatment resulted in reduced intestinal circumference leading to condensation of enteric neurons. No marked changes in neurotransmitter expression of the enteric neurons or in motor activity were noted.     

Sirenomelia (Mermaid baby)

Sirenomelia is a rare anomaly that rarely occurs as an isolated lesion. Several theories have been proposed regarding the etiopathogenesis. In this communication, we report a case of sirenomelia. Our patient was referred to hospital at the age of four hours. On examination, fusion of both lower limbs with hook shaped appendage, attached distally, absent genitalia and absent anal orifice was found. Spine was deficient in sacral region. Upper torso looked normal. Baby also had frothing from mouth. Abdomen was non-distended. Feeding tube no.10 was tried to pass through mouth, which got obstructed at the level of upper esophagus that suggested oesophageal atresia. The skeletogram revealed absence of pelvic bones, sacral agenesis, absent fibulae and fracture of both femora. The patient died at the age of 12 hours.