Nail‐Patella Syndrome with an Emphasis on the Risk of Renal and Ocular Findings

Abstract: We describe a 6‐year‐old girl presenting with nail dysplasia affecting all nails and hands for 2 years. Changes were seen on the ulnar side of the nails. She was assessed for limitation of elbow movements at 3 weeks of age and underwent physiotherapy for thickened biceps tendon. She subsequently developed laxity of knees and ankles, and x‐ray revealed absent patellae at 32 weeks. She had behavioral abnormalities and sleep disturbances. X‐ray of the pelvis revealed iliac horns, and urinalysis showed 3+ proteinuria. She had mixed hyperlipidemia. Her chromosomal analysis was normal but showed a mutation in the LMX1B gene. She was diagnosed to have Nail‐patella syndrome or Hereditary osteo‐onychodysplasia (HOOD Syndrome). Her renal imaging was normal, as were her ocular pressures. She is under regular surveillance by a multi‐disciplinary team of genetic counselors, orthopedists, rheumatologists and ophthalmologists. She is currently prescribed enalapril, melatonin and simvastatin.     

Non-conventional portosystemic shunts in children with extrahepatic portal vein obstruction

Portal hypertension due to extrahepatic portal vein obstruction is ideally treated by the use of a selective shunt. In a four year period between July 1987 and June 1992, 50 surgical procedures were carried out in 48 children with portal hypertension-related variceal hemorrhage. The portal, splenic, mesenteric, or coronary vein was not available for anastomosis in four children who, therefore, underwent non-conventional shunts which are described here. There was no postoperative mortality. One patient had a repeat gastrointestinal hemorrhage, probably due to stenosis of the shunt and failure to ligate the coronary vein. No rebleeding occurred on follow-up of at least 18 months. We conclude that in selected children requiring surgery for portal hypertension due to extrahepatic portal venous obstruction, a non-conventional shunt may be used with beneficial results.     

Pacemaker Interference with Screening Mammography

In female pacemaker recipients undergoing screening mammography, the impact of a pulse generator placed in the pectoral region has yet to be reviewed. We evaluated mammograms from 74 female pacemaker patients aged 40 years and older. The pulse generator obscured a portion of the mammogram in 7 patients (12%). During pacemaker implantation in women, the potential for the pulse generator to interfere with screening mammography should be considered. Baseline mammography should be obtained or reviewed; in high risk patients a nonconventional location for the pulse generator may be appropriate.     

Neurocardiac Responses to Vagoafferent Electrostimulation in Humans

To determine if cardiac vagal tone is enhanced by vagal electrostimulation (VES), we examined the heart rate autospectrum (HRA) in eight patients with implanted stimulators for complex partial seizures. In four patients the VES was activated at 30 Hz and 500-msec pulse (HiStim group) compared to 2 Hz and 130-msec pulse for the LoStim group (n = 4). Continuous ECG and respiratory waveforms were recorded for 45 minutes every 8 hours (7–8 AM; 3–4 PM 11–12 PM) during resting supine wakeful epochs both before and 15 days after surgical implantation. From the HRA cardiac sympathovagal balance was expressed as the ratio of the low frequency (LF) power to the high frequency (HF) power. RESULTS: There were no presurgical differences between the groups in heart rate, its variance, or the energies contained in any autospectral band. The LoStim group showed no significant change in heart rate (HR), HF peak power, or LF:HF ratios during 2 weeks of VES. Conversely, in the HiStim group, the LF:HF peak power ratio fan expression of sympathetic dominance) decreased from 2.5 ± 1.5 preimplant to 1.5 ± 0.49 (P < 0.02) with VES. During VES there was a significantly higher HF power in the HiStim compared to LoStim group. No diurnal variations in HRA values were seen for either group. CONCLUSIONS: (1) A relationship exists between selective vagal nerve electrostimulation and the HRA; and (2) high stimulation frequency of the vagus nerve in man is associated with sustained augmentation of cardiac vagal tone throughout a 24-hour cycle.     

IMPROVED TREATMENT RESULTS FOR LYMPHOBLASTIC LYMPHOMA IN ADOLESCENTS AND ADULTS USING A DOXORUBICIN-BASED (APO) PROTOCOL

A multi-drug chemotherapy (APO) protocol incorporating doxorubicin was used to treat 12 patients (median age 19 years) with lymphoblastic lymphoma. The APO protocol consisted of intensive induction and consolidation phases, prophylactic CNS treatment, and 24 months of maintenance therapy. Eleven patients had an anterior mediastinal mass, while T cell markers were found on the lymphoma cells in eight of the nine cases tested. Two patients had initial CNS involvement, with one also having bone marrow replacement. Complete remission was obtained in all patients, with no deaths due to treatment toxicity. There have been four relapses, one in the patient with initial CNS and leukemic disease, two in abdominal sites, and in the mediastinum in one patient. With a median follow-up time of 30 months from diagnosis, 67% of patients remain alive in first remission. These results indicate that the APO protocol provides a highly effective approach to the management of this high grade lymphoma in adolescents and adults.     

Biochemical diagnosis of Type 1b glycogen storage disease

A child with the classical signs and symptoms of Type 1 glycogen storage disease is presented who on investigation was shown to have a recently described variant of this disease known as Type 1b glycogen storage disease. A reliable and simple procedure for the diagnosis and differentiation of Types 1 and 1b glycogen storage disease is described, as the conventional diagnostic approach of assaying glucose-6-phosphate phosphohydrolase in frozen tissue will not diagnose Type 1b glycogen storage disease.
A portion of biopsy tissue should be maintained at a temperature near 0°C (but not frozen) and the remainder frozen. Glucose-6-phosphate phosphohydrolase assays are carried out on the tissue homogenates of both portions. In Type 1 glycogen storage disease, glucose-6-phosphate phosphohydrolase activity will be tow or absent in both frozen and unfrozen tissues. In Type 1b glycogen storage disease the frozen tissue homogenate will exhibit normal glucose-6-phosphate phosphohydrolase activity due to the disruption of the microsomes by tee crystals, white in the unfrozen tissue low levels of glucose-6-phosphate phosphohydrolase activity will be detected.     

Pulmonary Vein Isolation Alone in Patients with Persistent Atrial Fibrillation: An Ablation Strategy Facilitated by Antiarrhythmic Drug Induced Reverse Remodeling

PVI Alone in Patients with Persistent AF . Introduction: Pulmonary vein isolation (PVI) alone has been thought to be insufficient in patients with persistent atrial fibrillation (PersAF). We hypothesized that preablation treatment of PersAF with a potent antiarrhythmic drug (AAD) would facilitate reverse atrial remodeling and result in high procedural efficacy after PVI alone. Methods and Results: Seventy‐one consecutive patients (59.4 ± 9.8 years) with PersAF and prior AAD failure were treated with oral dofetilide (768 ± 291 mcg/day) for a median of 85 days pre‐PVI. P‐wave duration (Pdur) on ECG was used to assess reverse atrial remodeling. Thirty‐five patients with paroxysmal (P) AF not treated with an AAD served as controls. All patients underwent PVI alone; dofetilide was discontinued 1–3 mos postablation. In the PersAF patients, the Pdur decreased from 136.3 ± 21.7 ms (assessed postcardioversion on dofetilide) to 118.6 ± 20.4 ms (assessed immediately prior to PVI) (P < 0.001). In contrast, no change in Pdur (122.6 ± 11.5 ms vs. 121.3 ± 13.7 ms, P = NS) was observed in PAF patients. The 6 and 12 mos AAD‐free response to ablation was 76% and 70%, respectively, in PersAF patients, similar to the 80% and 75%, response in PAF patients (P = NS). A decline in Pdur in response to dofetilide was the only predictor of long‐term clinical response to PVI in patients with PersAF. Conclusions: Pre‐treatment with AAD resulted in a decrease in Pdur suggesting reverse atrial electrical remodeling in PersAF patients. This may explain the excellent clinical outcomes using PVI alone, and may suggest an alternative ablation strategy for PersAF. (J Cardiovasc Electrophysiol, Vol. 22, pp. 142‐148, February 2011)     

BOOK REVIEWS

Vascular Disease of the Gut: Pathophysiology, Recognition and Management.
Diets for Sick Children.     

An autotransfusion apparatus

An autotransfusion apparatus is described in detail and its use is illustrated with short case reports.