Microencapsulated islet allografts in diabetic NOD mice and nonhuman primates.

OBJECTIVE: Our goal was to assess the efficacy of encapsulated allogeneic islets transplanted in diabetic NOD mice and streptozotocin (STZ)-diabetic nonhuman primates (NHPs). MATERIALS AND METHODS: Murine or NHP islets were microencapsulated and transplanted in non-immunosuppressed mice or NHPs given clinically-acceptable immunosuppressive regimens, respectively. Two NHPs were treated with autologous mesenchymal stem cells (MSCs) and peri-transplant oxygen therapy. Different transplant sites (intraperitoneal [i.p.], omental pouch, omental surface, and bursa omentalis) were tested in separate NHPs. Graft function was monitored by exogenous insulin requirements, fasting blood glucose levels, glucose tolerance tests, percent hemoglobin A1c (% HbA1c), and C-peptide levels. In vitro assessment of grafts included histology, immunohistochemistry, and viability staining; host immune responses were characterized by flow cytometry and cytokine/chemokine multiplex ELISAS. RESULTS: Microencapsulated islet allografts functioned long-term i.p. in diabetic NOD mice without immunosuppression, but for a relatively short time in immunosuppressed NHPs. In the NHPs, encapsulated allo-islets initially reduced hyperglycemia, decreased exogenous insulin requirements, elevated C-peptide levels, and lowered % HbA1c in plasma, but graft function diminished with time, regardless of transplant site. At necropsy, microcapsules were intact and non-fibrotic, but many islets exhibited volume loss, central necrosis and endogenous markers of hypoxia. Animals receiving supplemental oxygen and autologous MSCs showed improved graft function for a longer post-transplant period. In diabetic NHPs and mice, cell-free microcapsules did not elicit a fibrotic response. CONCLUSIONS: The evidence suggested that hypoxia was a major factor for damage to encapsulated islets in vivo. To achieve long-term function, new approaches must be developed to increase the oxygen supply to microencapsulated islets and/or identify donor insulin-secreting cells which can tolerate hypoxia.

A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs.

Clinical criteria for the diagnosis of Prader-Willi Syndrome (PWS) were established by consensus in 1993 (Holm et al.). Specific molecular testing is now available and the purpose of diagnostic criteria has shifted to identify individuals to test, thus avoiding the expense of unnecessary analysis. The aim of this study was to find clinical indicators to select patients with suspected PWS for laboratory testing. We analyzed the prevalence of clinical signs and symptoms in 147 genetically diagnosed Italian patients with PWS (67 males and 80 females), aged from 9 months to 34.6 years (13.6 +/- 8.3 years), using the consensus diagnostic criteria, and according to age, sex and type of genetic abnormality. The prevalence of several clinical features changed significantly with age, but very few with sex. According to genetic subtypes (deletion vs UPD), only hypopigmentation and acromicria were more frequent in patients with deletion. Some criteria considered as minor or supportive by Holm et al. have higher prevalence than some major criteria. In conclusion, in order to identify patients with suspected PWS to submit to laboratory testing, we recommend a classification of clinical criteria according to age, giving more attention to those so-called minor or supportive criteria.

[Sexually transmitted infections]. / Le infezioni sessualmente trasmesse.

Sexually transmitted diseases (STD) are quite common and observed more frequently in teens. The adolescents represent a group at particular risk for STD due to biological, sociocultural and psychological factors. Undectected infections may lead to unwanted sequelae, including pelvic inflammatory disease, chronic abdominal pain, tubal scarring and increased risk of ectopic pregnancy. This paper deals with infections by Candida albicans, Chlamidia tracomatis, Neisseria gonorrheae, Gardnerella vaginalis, Treponema pallidum, Tricomonas vaginalis, Herpes simplex, Papilloma virus. In regard to gonorrhea, chlamydia, syphilis and papilloma virus, the expectation is that improved detection will decrease sequelae by early diagnosis and treatment. Prevention programs (information, use of hormonal contraception associated with condom use) and improved access to STD diagnosis and treatment services are useful to reduce the incidence of STD among young people.

[Adolescents and religion. The risk of religiosity without transcendence]. / Adolescenti e religione. Il rischio di una religiosità senza trascendenza.

We studied the religiosity of adolescents, taking into consideration both the Italian and American literature. Religious beliefs and practices are neither required nor appreciated by governmental institutions. They only belong to our inner self, where they become important if supported by personal and conscious conviction. In the USA 80% of youth (15-19 years) believe that God exists and in the divinity of Jesus, but only 18% attend weekly religious services. Females show greater involvement in the services and stronger closeness to God. However, the majority is made up of people who neither face religious issues nor break clearly with religion. Several studies have shown that religious involvement is associated with a diminished risk of behavioral problems, higher levels of school attainment and professional competence. Religion helps people deal with stress by means of mechanisms that are not yet clear. About 74% of committed catholics do volunteer work at least monthly, vs only 25% of non-believers. Attaining a full religious experience requires a period of criticism, and belonging to a church or to church related educational groups seems to be important. In Italy, over 95% of primary school students choose to study catholicism and attending catechism in church is also very widespread. The role that the catholic religion plays in encouraging religious socialization is noteworthy. Italian society acknowledges that the societal services provided by the church are useful, though this may lead to making full religious experiences less possible.

Fontaine-Farriaux craniosynostosis: second report in the literature.

Craniosynostosis is determined by the precocious fusion of one or more calvarial sutures leading to an abnormal skull shape. Additionally, nodular heterotopia is a disorder of neuronal migration and/or proliferation. We describe a very rare multiple congenital anomalies (MCA) syndrome in which craniosynostosis is associated with bilateral periventricular nodular heterotopia (BPNH) of the gray matter and other malformations involving hands, feet, and the gut. Clinical findings and further investigations suggest the diagnosis of craniosynostosis Fontaine-Farriaux type. To the best of our knowledge, this case is only the second report of this MCA syndrome. Based on the clinical and radiological data of the two cases reported, we hypothesize that this malformative complex may be considered a new BPNH/MCA syndrome and propose to classify it as BPNH/craniosynostosis. Previous studies demonstrated that at least two BPNH/MCA syndromes have been mapped to the Xq28 chromosomal region in which a causative gene for isolated BPNH is located. The same authors hypothesized that other BPNH syndromes could be due to microrearrangements at the same Xq28 region. Our case presents several overlapping features with some BPNH/MCA syndromes and it is possible that this new complex disorder may be caused by rearrangements at the same chromosomal region that could alter expression of different genes in Xq28.

[Prader-Willi syndrome]. / La sindrome di Prader-Willi.

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications.

[Contraception]. / La contraccezione.

PIP: Health professionals have to regard the sexual and emotional life of adolescents from the aspects of possible medical complications and risk behavior (STDs, AIDS, unwanted pregnancy), especially if the first sexual intercourse occurs before 15-16 years of age. There are no ideal contraceptive methods for adolescents, but whatever is chosen it has to be safe, easy to use, without side effects and completely reversible. The condom used with spermicides is quite popular and prevents STDs (gonococcal infections, chlamydia, cytomegalovirus (CMV), trichomonas, salpingitis, HIV infections), but requires detailed instructions for use and it may rupture. Low-dose oral contraceptives (OCs) are also safe and reliable, especially in the case of frequent sexual intercourse, after abortion and childbirth. Other methods include abstinence, incomplete sexual intercourse (safe sex), postcoital contraception, IUDs, subdermal implants, injectables, cervical caps, and the diaphragm. However, before such a contraceptive is prescribed medical consultation and periodical medical examinations are recommended. In the case of unprotected intercourse, the rupture of the condom, and sexual violation medical consultation is urgently called for. Postcoital contraception (within 48-72 hours after unprotected intercourse) can be prescribed by a physician. Various problems are associated with adolescent sexuality related to their sense of omnipotence, dismissal of risk, inexperience, and timidity.^ieng

[Slipped capital femoral epiphysis and biosynthetic growth hormone therapy. A case report]. / Epifisiolisi della testa femorale in corso di terapia con ormone biosintetico della crescita. Descrizione di un caso clinico.

The case of an adolescent male with short stature and partial growth hormone deficiency who developed a slipped capital femoral epiphysis during the treatment with recombinant growth hormone is reported in this paper. Our patient started GH therapy with recombinant growth hormone at the dose of 15 U/m2/week administered subcutaneously three times a week. After 6 months of GH therapy there was a satisfactory response to the therapy and his growth velocity improved significantly. Unfortunately the patient had pain of the left hip which was exacerbated by walking. The diagnosis of slipped capital femoral epiphysis was confirmed radiographically and treated surgically with internal fixation of the epiphysis with the use of Moore's pins. Treatment with GH was discontinued. After one year there was the complete resolution of the disease and the adolescent was able to return at his usual way of life. Slipped capital femoral epiphysis is a disease in which the anatomic relationship between the femoral head and neck changes by disruption of the epiphyseal plate. This condition can occur only before the epiphyseal plate closes. Patients vary in age from newborn infant to teenager, nevertheless slipped capital femoral epiphysis is probably the most common hip disease during adolescence, and is often associated with endocrine imbalance including growth hormone deficiency. The aetiology of slipped capital femoral epiphysis is still unknown although many theories have been proposed.(ABSTRACT TRUNCATED AT 250 WORDS)

[Validity of self-assessment of pubertal maturation in early adolescents]. / Validità dei test di autovalutazione dello sviluppo puberale negli adolescenti.

Self-assessment measures of sexual maturation continue to be used to classify pubertal development even though their reliability remains in question. This study examined the accuracy of self-assessment measures by early adolescents in one setting, during a day hospital. Standardized figure drawings depicting Tanner's sexual maturation stages were shown to early adolescents, and subjects were asked to rate their own pubertal development. Physical examination by physicians was used to corroborate sexual maturation. Participating in this study were 50 males (10-17 age) and 50 females (9-16 age). A small concordance rate between physical examination and self-assessment has been reported: 14% in males, 16% in females. There was a tendency for subjects males (48%) to overestimate their sexual development at later stages. A great part of the females (40%) answered exactly, with a shift to underestimation (36%) for breast stage and (54%) for pubic hair stage. So, in our experience, the small concordance between physical examination and self-assessment of pubertal maturation can't be used like a not controlled test.

[Nosologic evaluation of Noonan syndrome and description of nine cases]. / Inquadramento nosologico della sindrome di Noonan e descrizione di nove casi.

Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births. The primary biochemical defect in Noonan's syndrome is unknown. We analyzed 9 patients (5 males and 4 females) in an age range of 6 months to 10 years and 3 months with Noonan syndrome. Patients were diagnosed as having the syndrome if they had characteristic facies and a normal karyotype, plus one of the following signs: cardiac defects, short stature or undescended testes. All patients have ocular anomalies (epicanthal folds, ptosis of eyelids, hypertelorism, downslanting palpebral fissures and ocular proptosis). Congenital heart malformations are present in 8 patients and the more frequent cardiopath is pulmonary valve stenosis due to a dysplastic or thickened valve. Short stature is present in 6 patients and 3 of them are actually on treatment with rhGH. A moderate-mild mental retardation is present in 6 patients. Case n. 9 had a syringomyelia and tethered cord. These malformations are rarely reported in Noonan's syndrome.

[Seckel's syndrome]. / La sindrome di Seckel.

The case of a girl with Seckel syndrome, born of an epileptic mother who was taking anticonvulsant drugs, is reported. The patient, admitted to our clinic for short stature, presented some signs of Seckel syndrome: microcephaly, a "bird headed" profile with receding chin and forehead and large beaked nose. Microcephaly and a low birth weight are present in Seckel syndrome, but also in the newborn of epileptic mothers who received anticonvulsive drugs. In the present paper the Authors questioned if the described syndrome was caused by the use of antiepileptic drugs during pregnancy, or epilepsy of the mother, or if it was casual.