Health supervision for children with achondroplasia

Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families.     

Helminth regulation of host IL-4Ralpha/Stat6 signaling: mechanism underlying NOS-2 inhibition by Trichinella spiralis

Gastrointestinal nematode infection is known to alter host T cell activation and has been used to study immune and inflammatory reactions in which nitric oxide (NO) is a versatile player. We previously demonstrated that Trichinella spiralis infection inhibits host inducible NO synthase (NOS-2) expression. We now demonstrate that (i) an IL-4 receptor alpha-subunit (IL-4Ralpha)/Stat6-dependent but T cell-independent pathway is the key for the nematode-induced host NOS-2 inhibition; (ii) endogenous IL-4 and IL-13, the only known IL-4Ralpha ligands, are not required for activating the pathway; and (iii) treatment of RAW264.7 cells with parasite-cultured medium inhibits NOS-2 expression but not cyclooxygenase 2 expression. We propose that a yet-unidentified substance is released by the nematode during the host-parasite interaction.     

Carcinosarcoma arising in a patient with multiple cylindromas

Familial cylindromatosis (Brooke-Spiegler syndrome) is a rare autosomal dominant inherited disease characterized by the development of adnexal tumors, mostly cylindromas, but also trichoepitheliomas and spiradenomas. Malignant tumors may occur, usually with the features of a cylindrocarcinoma.The authors describe the case of a 75-year-old woman with the Brooke-Spiegler syndrome who presented with multiple nodules of the scalp, face, and trunk. In 1997 she underwent surgical excision of the entire forehead and scalp with skin grafting. Histologic examination revealed multiple cylindromas, some with areas of spiradenoma and one with an extensive adenomatous component; some trichoepitheliomas were also evident. In 2002, a nodule of the trunk suddenly increased in size and became painful. The lesion was excised and histologic and immunohistochemical evaluation revealed a malignant cutaneous biphasic tumor extending into the subcutis, consisting of a major portion with the features of an adnexal carcinoma and of a minor one of atypical spindle cells. Biphasic malignant skin tumors are rare and only a limited number have been described, none in association with the Brooke-Spiegler syndrome. The authors discuss the morphogenesis of the folliculosebaceous-apocrine unit from which the tumors in this syndrome derive, and the pivotal role of mesenchymal cells in determining the process. Since the Brooke-Spiegler syndrome is characterized by a germline mutation in the CYLD oncosuppressor gene, a biphasic tumor in this setting may represent a true carcinosarcoma.     

Hysterectomies amongst teenagers in Calabar, Nigeria

A 10-year retrospective study of hysterectomies performed on teenagers in Calabar was carried out.     

Management of the umbilical cord--a guide to best care

Updating cord care, using evidence-based research, is the best way forward for midwives everywhere. Only then, can we teach women to care for their infants in the safest possible way. This will not only avoid confusion, but also will lead to continuity of care and reduced infection rates. Lastly, but not to be underestimated, is cost-effectiveness. Savings can be made as a result of the reduced need to use antiseptic products. Added to this is the potential savings to be made in midwives' time, which is the most expensive commodity in the care of mother and baby. At present, extra visits are usually as a direct result of cord separation problems. Finally there is the cost, both financial and emotional, of neonatal mortality and morbidity, as a result of omphalitis.     

Calcium and phosphorus balance of extremely preterm infants with estradiol and progesterone replacement

Infants born extremely prematurely are deprived of the placental supply of estradiol (E2) and progesterone (Prog) at an earlier developmental stage compared to an infant born at term. We hypothesized that the retention of Ca (calcium) and P (phosphorus) would be improved by an E2 and Prog replacement. Twenty female infants with a mean gestational age of 26.6 weeks (+/-1.5 SD) and a mean birth weight of 744 g (+/-156) were enrolled in a randomized controlled pilot study. One group received an E2 and Prog replacement to maintain intrauterine plasma concentrations of E2 and Prog and the other group served as control. When intake of formula was at least 100 mL/kg/d, a 3-day Ca and P balance study was performed. Ca and P intake was increased individually until both elements were excreted in the urine. The mean Ca and P retention was 4.21 (+/-1.75) mMol/kg/d (58% of intake) and 2.66 (+/-1.01) mMol/kg/d (80%) in the replaced group and 3.39 (+/-1.69) mMol/kg/d (56%) and 2.03 (+/-0.79) mMol/kg/d (71%) in the control group, respectively. In this pilot study the retention of Ca and P was not improved by an E2 and Prog replacement.     

Medium-term outcome of palatal surgery for snoring using the Somnus unit

The aim of this study was to retrospectively survey patients who had undergone radiofrequency ablation of the soft palate for snoring complaints. Fifty-nine patients who had undergone radiofrequency ablation were sent an anonymous questionnaire to assess snoring (using visual analogue scales), pain and satisfaction with the procedure. Sixty-one per cent of the group returned the questionnaire. The mean time since operation was 17.5 months. Taking an improvement in snoring of 50 per cent or greater as a successful operation, snoring improvement occurred in 22 per cent. Post-operative pain was minimal with a median pain score of zero. Information was requested on whether the patient would undergo this procedure again, 50 per cent responded that they would and 44 per cent would advise a friend in the same situation to have this procedure. Radiofrequency ablation of the soft palate, as in other forms of surgery for snoring, seems to have a relapse rate over the long-term.     

Restrictive Interatrial Communication with Protein-Losing Enteropathy and Coagulopathy in Hypoplastic Left Heart Syndrome After Norwood Palliation

The Norwood procedure is one option for neonates born with hypoplastic left heart syndrome. We describe a case of an infant with hypoplastic left heart syndrome, palliatively repaired with the Norwood procedure. The infant developed restriction of the interatrial communication, despite atrioseptectomy at the first stage of palliation. Consequently, a protein-losing enteropathy with severe coagulopathy developed which resolved after a repeat atrioseptectomy.