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To present our experience in the treatment of child optic pathway gliomas in the last 25 years.Seventeen children under 10 years of age have been analyzed and assessed from clinic, ophthalmologic, endocrinologic, neurological, neuropathologic, and imaginologic points of view.Predominance of female patients, 10 girls and 7 boys between 6 and 122 months old; mean age was 3 years and 8 months. The most frequent symptoms have been ophthalmologic and visual alterations in all 17 patients, endocrine alterations in 10, and neurological signs in 6. One of the patients presented neurofibromatosis type 1 (NF1), another patient had Down syndrome. Diagnosed using computed tomography or/and magnetic resonance imaging, histological studies showed pilocytic astrocytomas in 13 cases and a fibrillary astrocytoma grade II in 1 case. There were three patients without histological diagnosis; one of them had NF1. The treatment consisted of surgery, external beam radiotherapy, chemotherapy, and brachytherapy with iodine 125, separately or combined. Five patients died; the causes were secondary tumors in two children, tumor recurrence in one, sepsis secondary to respiratory and urinary tract infections in the child with Down syndrome, and finally, hydrocephaly due to hyperproteinorachia of tumor origin in one. Average survival was 89 months.Chemotherapy and brachytherapy are therapeutic methods to be considered, especially in children under 5. Marsupialization of the residual cyst into the ventricular system postradio or oncolytic treatment through endoscopic or stereotactic techniques is useful in the treatment of endocranial hypertension and/or hypothalamic compression in these patients.

The sulfonation of polyaniline (PANI) films by nucleophilic addition of sulfite ion has been controlled through the polymer oxidation state under electrochemical control. The process was monitored by in situ electrochemical quartz crystal microbalance (EQCM), and the polymer oxidation was accomplished by electrode potential steps in sulfite aqueous solutions. The nucleophilic addition of sulfite to PANI only takes place on the oxidized polymer. From the ratio of added mass to the injected charge, the degree of sulfonation has been obtained with a yield as high as 50%. It has been observed that the ion-exchange mechanism during the oxidation−reduction process in the resulting sulfonated polymer is analogous to the polymer produced by electrophilic sulfonation of polyaniline or by copolymerization of aniline with aminosulfonic acids, unlike the ionic exchange observed for unmodified PANI.

The ion exchange occurring between a poly(vinylferrocene) (PVF) film and the bathing solution during the oxidation−reduction process was studied by probe beam deflection (PBD) in aqueous and nonaqueous media. In nonaqueous media the results for different electrolyte salts indicate that anions are exchanged. In aqueous media, the ion exchange is strongly affected by the anion present in the solution. In tetrafluoroborate and hexafluorophosphate solutions, cation exchange is observed while in toluenesulfonate solution anion exchange in observed. In perchlorate and trifluoromethanesulfonate solutions a mixed mechanism involving cation and anion exchange is observed. Expulsion of cations precedes anion insertion on oxidation. The ion flux is not affected by the pH (in the range from 1 to 7) or the electrolyte concentration (between 0.1 and 4 M). The kind of ion exchanged appears to correlate with the type of interaction (attractive or repulsive) between redox centers inside the film seen from voltammogram shapes. Ion exchange was also studied during the wetting of the films by electrolyte and shown to be of the same type during the initial cycles of a virgin film in the electrolyte. When a film is left in the reduced state for a period of time, then the next cycle to be recorded reveals a more anodic peak potential and a lower peak current. The ion flux measured by PBD is in the same direction as in continuous cycling.

Long-term results of 13 liver transplantations in patients with a previous diagnosis of type I familial amyloid polyneuropathy (FAP) are presented. The diagnosis of type I FAP was based on the presence of a biochemical marker in the plasma (TTR-Met-30 in 11 patients, TTR-Ala-71 in two). Maximum follow-up is 28 months and the survival rate stands at 11 of 13 patients. Two patients died from sepsis at 2 and 6 months. TTR disappeared from plasma in all cases. Neurological status improved in all eight patients undergoing transplantation more than 6 months previously, although electromyographic studies showed a slight improvement only in the six with follow-up of more than 1 year. All 13 patients showed a hyperdynamic haemodynamic pattern with a high incidence (four patients) of the use of venovenous bypass due to haemodynamic intolerance. Two patients also received transplants by the ‘piggy-back’ technique. In conclusion, liver transplantation may be useful in the treatment of certain patients with FAP to halt and improve the neurological consequences of the disease.

The statural growth of 49 children (29 F, 20 M) with CAH by deficit of 21-CH was analyzed. Mean age (mCA) upon diagnosis was 37.4 days (48 hs–9m) for 24 patients (48.9%) with salt wasting CAH (CAHsw) and 4.85 yr (13d–19yr) for 25 patients (51.02%) with simple virilizing CAH (CAHsv). Standard deviation scores (SDS) were analyzed for height (Tanner) and Bone Age (Greulich and Pyle). The group of CAHsv was subdivided into three age groups: 1)9 pat < of 6m: mCA 41 days (13d–4.5m): 2)11 pat.< of 10 yr: mCA 4.78 yr (2.5 yr–6.11 yr) and 3)5 pat.> of 10 yr MCA 12.19 yr (10.6 yr–19 yr). A follow up period of 4.75 yr (1.3 yr–16.8 yr) was done in 41 patients (83.7%). SDS of height in CAHsw group diminished significantly from -1.62±1.99 (-5.23/+2) to -0.84±1.49) (-2.48/+2.76) at the last control. For CAHsv group the results were:Mean differences of BA for CA ware -0.11 yr at diagnosis and -0.09 yr at the last visit in CAHsw. In CAHsv in two age groups analyzed: 1) < 6m: diminished from – -0.12 yr to -0.16 yr and 2) < 10 y: from +5.05 yr to +3.8 yr. Conclusions: Decreasing differences in SDS of height for CA ware observed in both groups. They resulted significant in patients with CAHsw and group 2 of CAHvs. BA was not modified in children with CAHsw or CAHsv diagnosed before 6 months of age. Older children decreased their accelerated BA in 1.25 years during the period analyzed.

Eighteen hypopituitary children, 6 girls and 12 boys, between 2 and 15 years of age, were treated for eighteen months with met-rhHg (Somatonorm). Dosage used were 0.5 IU/kg/week by daily subcutaneous (s.c.) or three tines a week intramuscular (i.m.) injections. Two of the children were twins with congenital isolated growth hormone deficiency of the type 1 A. Ore patient entered puberty six months after the treatment was started. These three children were not included in the growth evaluation.Antibodies against met-rhGH developed in 6/8and 3/8 patients injected by s.c. and i.m. route respectively, but titers were low and did not impair growth velocity. Both twins with type 1 A GHD developed early very high antibody titers. Growth velocity fell in one but not in the other. Although no significant differences in the growth promotion effect were noted between both treatment groups antibody development was more frequently seen after s.c. met-rhGH administration. All patients increased significantly the growth velocity and final height prognosis, without local or systemic side effects.

We administered recombinant IGF-I to 8 children with GHIS, due either to GH receptor deficiency (Laron syndrome, n=5) or growth-attenuating antibodies to GH (3 pts. with GH gene deletion). Their ages range from 3 to 11 years and they have been treated for 3 to 18 months (fig.). The dose of IGF-I (Genentech, Inc.) ranged between 80 and 120 mcg/kg. sc, twice daily. Two hours post-injection the patients consumed a snack or meal. Height velocity improved significantly in all but one patient (*). He had poor growth (2.6cm/yr) during the first 3 months, when he had intercurrent illnesses and poor nutrient intake. His growth velocity increased to 10.2cm/yr (error bar) during the second three months of treatment. Hypoglycemia has occured infrequently and only in the two youngest patients early in treatment. No adverse changes in biochemical profile have been observed. Increased height velocity has been accompanied by increased caloric intake and weight gain, a reduction in subcutaneous adipose tissue and catch-up growth of kidneys and spleen (by ultrasound), These data show that IGF-I stimulates linear growth by endocrine mechanisms and suggest: that chronic treatment with IGF-I Is likely to be a successful form of therapy for patients with GHIS.

Orthotopic liver transpalnatation (OLT) has been recently proposed as an efficient treatment for Familial Amyloid Polineuropathy (FAP). There is not many experience with the neurophysiological evolution of these patients treated with OLT because of the short time since the first transplantation. We present the neurographic findings from a serie of explorations carried out in 12 patients suffering from FAP and treated with OLT. The patients were explored prior to treatment and three, six, twelve, eighteen and twenty-four months afterwards. All the neurophysiological explorations included sensitive nerve conduction of median and cubital nerves, motor nerve conduction of median and peroneal nerves and conduction of the sural nerve. We observed a sligth improvement at successive explorations for most cases, without significant worsening in any case. The observed improvement was more important at the less damaged nerves.

Background In Stockholm (1993) we presented the selection criteria for liver transplantation (OLT) in the first 11 FAP patients. Now we report the present approach after 18 transplants; the aims are to improve quality of life and diminish morbidity and mortality of an efective OLT. Methods We indicate OLT in FAP patients with objective troubles which reduce their quality of life; consequently we discard OLT in asymptomatic carriers with biopsy proof of amyloid deposition and in FAP patients with mild sensory and autonomic troubles which scarcely interfere with their activities; on another hand we refuse patients in very advanced stages because of high operatory risk and scarce possibilities of recovery. We selected 2 groups of candidates which FAP duration ranging from 1 to 20 years: a) 9 younger patients (3rd and 4th decade), 5 with rapid progress of symptoms (aggressive form) and 4 with slow progress, b) 9 elder patients (5th and 6th decade), 4 with aggressive forms and 5 with slow progress. 7 selected patients were sibs from 2 families; 4 and 3 respectively. Basic conditions 1) Cardiac assessment within normal limits. 2) Patients with severe renal failure are discarded for OLT not combined with renal transplantation; we accept those with renal amyloidosis (biopsy proven) with proteinura less than 3 gr. per 24 h. but normal renal function, and others who already have mild renal failure (creatinine less than 2 mg.). 3) During anhepatic stage, we advise the use of venovenous bypass, or much better, the piggyback procedure with preservation of the inferior vena cava, to avoid deleterous effects on cardiovascular and renal systems with the simple crossclamping technique, specially in patients with renal amyloidosis and amyloid myocardial involvement. Risk factors 1) Atonic neurogenic bladder, syringomyelic anesthesia in the back, orthostatic hypotension and respiratory failure of muscular origin can originate complications in the postoperative period and later on. 2) Very remote possibility of inefective OLT if the donor was an assymptomatic carrier without FAP antecedents, particularly in zones with high prevelance of carriers (Portugal, Japan and Sweden). The FAP patient as a liver donor We insist on the possible transplantation of his removed liver, to another patient with serious liver disease.

We present the results of liver transplantation (LT) carried out in 4 siblings diagnosed with FAP 1 TTR Ala 71. The family was born in Albacete (Spain). There were 3 males and 1 female, with a mean age of 28+ −3.9 years (22-33) and a very agressive form of FAP I. The mean onset of symptoms before LT was 2.25+ −0.7 years. Three of them presented vitreous amyloid deposits. All cases suffered relevant loss of weight. Results 1. There was no mortality. The 4 patients are alive with a mean follow-up of 22+ −9 months (4-46). 2. In all cases there was a significant decrease of the abnormal TTR level after LT. 3. In all cases we noticed a neurological improvement which was more relevant in patients with a longer follow-up. 4. There was a progression of the vitreous amyloid after LT. Conclusions 1. LT improves the neurological involvement of the FAP 1 TTR Ala 71. 2. LT does not stop the progression of the vitreous amyloid deposits.

Background The consensus of the 1st International Workshop (1993) was that liver transplantation (OLT) is a worthwhile procedure for the treatment of FAP. We studied the main data of our 17 patients who underwent transplantation between 13-9-1991 and 22-6-1995. Epidemiology Sex: 14 male. Age: 22-58; mean 42±12. Years FAP: 1-20. Heredity: 13 were familial cases, all with anticipation of onset age. Sibling from 2 families; 4 and 3 sibs respectively. TTR variant: 14 Met 30 and 4 Ala 71. Birthplace: 12 Majorca, 4 Spanish mainland and 2 Portugal Biochemical results Plasma levels of TTR variant immediately came down to negative values; later on levels remained negatives. Outcome 5 patients died (mortality 28%); 3 by sepsis (after 6, 1.5 and 8 months), 1 by complete atrioventricular block (after 1.5 months) and 1 in a very advanced FAP stage, by perioperatory multifactorial shock and secondary multiorgan failure (after 3 days). Interval after OLT in alive patients: between 8 and 44 months in 10, and less than 2 in the last 3 cases. Clinical results in 10 patients They were better in the youngest patients. 1) Disappearance of anxiety and depression in 100%. 2) Slow weight gain in 70%. 3) Peripheral neuropathy. No progression in any case; in 90% ability and stability improved slowly and we realized increase of muscular mass and strength; in 100% light recovery of termoalgesic sensation; electromyography only showed slight improvement after more than 12 months of OLT. 4) Oesophageal dysfunctions didn't recover, gastric and intestinal troubles improved in 60%. 5) Slow improvement of urinary disturbances in 87%. 6) In 89% significant improvement of orthostatic hypotension. 7) In 4 patients light and short erections reappeared. 8) Dry irritative cought disappeared in 4 patients. 9) Reappearance of transpiration on some anhidrotic zones in 2 patients. 10) Proteinuria disappeared in the only patient with it. Conclusions OLT results are encouraging. FAP patients in borderline conditions must be discarded. Immediate treatment of infections, and prevention of rejection and nephrotoxicity are mandatory. We advise periodic control of the cardiac conduction system in patients with important myocardial involvement specially during intercurrent processes.

The aims of this paper were: 1) To analyse the morbidity and mortality rates in relation to surgical technique in 18 patients with FAP I treated by liver transplant (LT) and, 2) To study the indication for veno-venous by-pass during the anhepatic phase. Patients and Methods During a 4-year period (September 1991-June 1995) 18 patients diagnosed with FAP I underwent a liver transplant (LT). The mean cold ischaemic time was 323+ −44 min, the mean surgical time in the recipient was 279+ −68 min and the mean red blood transfusion was 13.1+ −6 units. Veno-venous by-pass was indicated when the systolic blood pressure was under 100 mm Hg or the cardiac index decreased more than 50% after portal vein and inferior vena cava clamping for 5 minutes. Results 1. In 4 cases our of 12 (33%) we used veno-venous by-pass. In 6 cases we performed the Piggy-Back technique as a first choice procedure. 2. We had no vascular complications or intraoperative complications or intraoperative mortality. Four patients presented biliary tract complications, and reoperation was necessary in 3 cases. 3. After a mean follow-up of 16.5+ −8 months the mortality rate was 28% (5 cases). Only 1 patient died during the first postoperative month (multiorgan failure). Conclusions 1. LT is an efficient treatment in FAP I, with no intraoperataive mortality, little postoperative mortality (1 month, 1 case) and low morbidity in relation to the surgical technique. 2. FAP I patients present a high rate of non-haemodinamic tolerance during the anhepatic phase and consequently, the Piggy-Back technique could be a first choice procedure in FAP I as an alternative to veno-venous by-pass.

A comparative study of spontaneous nocturnal GH secretion during sleep of short children was measured (heights below the 3rd percentike and/or height velocities below the 25th percentile for age). They had different responses to a pharmacologic stimuli test.GH levels were measured in sera samples that were drawn every 30 minutes during 12 hours in a group of 14 children, aged 3.3-15.1 years (9 girls and 5 boys). To determine GH levels we used polyclonal RIA. The maximal responses in GH stimulated levels allowed us to classify the sample in three groups; lower than 7 ng/ml, between 7-10 ng/ml, and higher than 10 ng/ml.The maximal response in GH stimulated levels did not exceed 10 ng/ml in 64.3% of the cases:meanwhile, in the spontaneous pooled sera this was below 3 ng/ml in 64.2% of the sample. The profile of nocturnal samplings of spontaneous GH secretions showed three significant peaks in decreasing order, between the hours 1-1.30 (p<0.09), 4-4.30 hs (p < 0.06), 6.30-7 hs (p < 0.017). The mean values of spontaneous GH concentration in children with stimulated GH responses < to 7 ng/ml were lower than those responses > to 7 ng/ml. An acute test with, GRF(1-29), (1.5 ug/Kg,IV) was performed in 10 patients, 7 of whan exceeded 10ng/ml in GH levels.In conclusion,the measurement of GH spontaneous secretion contributed to identify those children with low endogenous secretion.