Failure to thrive and intestinal diseases in congenital disorders of glycosylation]

Congenital disorders of glycosylation type I (GDG-I) is a class of genetic multisystem disorders characterised by defective glycosylation of glycoproteins. The characteristics and mechanisms of failure to thrive and intestinal diseases present in CDG-I are anectodal. PATIENTS AND METHODS: The aim of this study was to analyse 7 CDG-I (4 CDG-Ia, 2 CDG-Ib and 1 CDG-Ix) with important digestive symptoms and failure to thrive in order to characterise the mechanisms implied. RESULTS: Four children had no skin abnormality or dysmorphia (1 CDG-Ia, 2 CDG-Ib, 1 CDG-Ix). An encephalopathy with cerebellar hypoplasia was present only in the 4 CDG-Ia. Failure to thrive and diarrhea were present during the first month of life in 6 and appeared at 5 years in one CDG-Ia associated to mild or severe hepatopathy in all patients. One CDG-Ia, 1 CDG-Ib, 1 CDG-Ix had an exsudative enteropathy. A positive steatorrhea was present in 3 patients. Five patients had an abnormal small bowel biopsy. Abnormalities were variable: moderate inflammation of the chorion without villous atrophy in 2, intra-enterocyte fat accumulation without villous atrophy in 2, and partial villous atrophy with lymphangectasia in 1. In 2 CDG-Ia the intestinal biopsy was normal. Enteral nutrition in 4 and parenteral nutrition in 2 were effective in 4 patients and 1 patient with an exsudative enteropathy respond to a free fat diet (CDG-Ix). CONCLUSION: The digestive symptoms with failure to thrive is a common feature of CDG-I and could be the first symptoms. The diagnostic should be suspected if no other cause is found. Mechanisms of the intestinal symptoms appear to be multiple such as inflammation, abnormal enterocyte lipid transport or intestinal permeability related to the abnormal glycosylation of intestinal mucosa glycoproteins.     

Influence of pancreas transplantation on cardiorespiratory reflexes, nerve conduction, and mortality in diabetes mellitus

Cardiorespiratory reflexes (CRR) were studied by measuring heart-rate variation during 6 breaths/min respiration and a Valsalva maneuver in 232 insulin-dependent diabetic subjects. Abnormalities were found in 175 patients. During a 7-yr follow-up, 41 (23.4%) patients with abnormal and 2 (3.5%) with normal CRR tests died. The mortality rates of diabetic patients with abnormal autonomic function tests were 17% at 2.5 yr, 33% at 5 yr, and 40% at 7 yr, significantly higher (P less than 0.002) than in patients with normal tests (rates of 4.6, 4.6, and 13.8% at the respective intervals). Nerve conduction studies (NCS) were indicative of somatic neuropathy in 148 of 205 patients. Mortality rates were higher in patients with abnormal NCS than in those with normal results (P less than 0.025). Among patients with abnormal autonomic function, patients with a functioning pancreas transplantation (PTx) had better survival rates than patients with a failed PTx (P less than 0.005) and, on long-term follow-up, better rates than patients without PTx. Similar results were found comparing the same group of patients who had abnormal NCS.     

Phospholipid determination in platelets,plasma and red cells of patients with chronic myeloproliferative disorders

Abstract: Red cell phospholipids (PLs) were assessed in 11 patients with essential thrombocythemia and 5 patients with polycythemia vera. Platelet and plasma PLs were also determined in 10 of these patients, and the results were compared with studies performed in 16 healthy volunteers. The amount of platelet PLs in patients was similar to controls (556 ± 90 nmol/10⁹cells, versus 481 ± 91 nmol/10⁹cells), as was the percentage of the main specimens of these compounds, including phosphatidylserine (11.1 ± 0.8%), which is relevant for platelet procoagulant activity. We did not find differences between red cell PLs of patients (300 ± 60 nmol/10⁹cells), versus controls (289 ± 71 nmol/10⁹cells), and the sphingomyelin/phosphatidylcholine ratio in these cells was the same in both groups (0.75 ± 0.1). Finally, we did not detect any alteration in the amount of plasma PLs specimens.     

Rupture of the posterior tibial tendon: CT and surgical findings

Computed tomography (CT) was performed in 42 patients with 49 clinically suspected tears of the posterior tibial tendon. Twenty-eight of the 49 suspected tears were subsequently surgically explored and repaired. Three patterns of tendon abnormalities were recognized on CT scans: type I-intact, hypertrophied, heterogeneous tendon; type II-attenuated tendon; and type III-absence of a portion of a tendon. Types I and II correlated with partial rupture seen during surgery, and type III correlated with complete rupture of the tendon. CT findings were accurate in 96% of the patients who underwent surgery. In four cases (14%), tendon rupture was seen on CT scans, but the extent of the injury was underestimated and the rupture was misclassified. Reactive periostitis of the distal tibia was seen in 71% of diseased tendons and may represent an important factor in the diagnosis of tendon rupture.     

Effect of age and maturation on sudomotor nerve regeneration in mice

This study demonstrates that regeneration of unmyelinated sudomotor axons in mice becomes progressively slower during aging. Identical lesions were made in mice aged 0, 2, 4, 6, 7, 24 and 60 weeks. The peroneal, sural and saphenous nerves were cut and tied to prevent regeneration. The sciatic nerve was then frozen at the thigh, leaving the hind paw completely denervated. By 7 days, sweat glands (SGs) of the paw had ceased sweating after pilocarpine injection. Subsequent regeneration of sudomotor axons was judged by the rate of return of pilocarpine sensitivity. SGs in the hind paws of normal newborn mice did not sweat at birth. Cholinergic stimulation first activated sweating at 13 days of life. The number of responsive SGs increased progressively to reach the adult level by 30 days. In one-week-old mice, whose sciatic nerve had been sectioned, the SG response to cholinergic stimulation was very delayed in time and reduced in number. Sweat glands of young mice, between 2 and 4 weeks of age, regained cholinergic sensitivity at a faster rate than mature animals and attained normal SG counts. Throughout a broad intermediate range of age in adulthood (7-24 weeks), the rate of sudomotor nerve regeneration was the same, but in older mice (60 weeks) it was slower and less complete.     

Ruptured aneurysm of the sinus of Valsalva. Presentation of 4 cases and review of the literature

We studied four patients with ruptured aneurysms of the sinus of Valsalva. All were men with a mean age of 33 years. The presenting illness was insidious in three and of abrupt onset in one. Physical examination showed a continuous murmur in all. Chest X ray film showed moderate cardiomegaly. Electrocardiogram disclosed left ventricular hypertrophy. Echocardiogram revealed the site of the rupture which was corroborated by aortography. Two aneurysms ruptured to the right ventricle and two to the right atrium. All were corrected by surgery. All patients became asymptomatic.     

A diagnostic algorithm for male genital oedema

Male genital oedema can be defined as swelling or the appearance of swelling of the scrotum and/or the penile shaft and prepuce. Despite the various causes of genital oedema reported in the published work, a concise approach to the evaluation and management has not been sufficiently addressed.