Pallister-Hall syndrome in a 2-years-old girl.

INTRODUCTION: Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polydactyly, bifid or shortened epiglottis, visceral anomalies, hypothalamic hamartoma often combined with hypopituitarism. PHS is characterized by significant variability in the expression of clinical symptoms. The clinical course ranges from mild with a good prognosis to severe and which can lead to death during the neonatal period. CASE REPORT: Two-years-old girl with facial dysmorphia, skeletal malformations of hand and feet and growth hormone deficiency. PHS was diagnosed on the basis of the presented symptoms and genetic tests. SUMMARY: Skeletal malformations, such as polydactyly or oligodactyly, are a markers which can be associated with endocrinological disorders. Quick and correct diagnosis would help in planning treatment during childhood and giving family counseling, including prenatal advice regarding the next pregnancy of the child's mother.

[Primary prevention of type 1 diabetes. Actual situation and perspectives]. / Pierwotna prewencja cukrzycy typu 1. Stan obecny i perspektywy.

The authors presented a review of the actual literature of primary prevention of type 1 diabetes. They stressed a dramatic increase of patients with newly diagnosed diabetes, which was called an epidemic of the XXI century. According to the recently published data, the increase of newly diagnosed cases was more rapid/faster than it was expected/anticipated, and the dramatic increase in the occurrence/prevalence of type 1 diabetes was observed particularly in children up to 5 years of age. Therefore, like it was mentioned by the authors of recently published reports, the necessity of an effective primary prevention of type 1 diabetes also increased. Many clinical trials of primary prevention of type 1 diabetes, in different clinical stages/phases, are currently being conducted. Scientific investigations about an effective primary prevention are now very important, seen as priority problems. Investigations in Poland, which started in the year 2002 and the end of them was established for the year 2017, are also performed as part of an international scientific program. The identification of subjects with a genetic risk of type 1 diabetes is now possible. Very interesting data of a therapy with t-regulatory cells (tregs), especially those received from the umbilical cord blood of newborns are worth emphasizing.

[Progress in diagnostics and therapy of type 1 and type 2 diabetes--part 2]. / Postepy w leczeniu i diagnostyce cukrzycy typu 1 i typu 2--czesc druga.

The report is the second part of a former publication. The authors presented a series of reports, especially from the last year, concerned with diagnostics and therapy of type 1 and type 2 diabetes. The progress of the diagnostics included especially new, more perfect glycaemic monitoring systems. The progress and future of the therapy with personal insulin pumps and different international recommendations for the therapy of type 1 diabetes with short-acting insulin analogues were presented. Also, the problem of the reports about the increased risk of cancer after the treatment with a long-acting insulin analogue glargine was discussed (Lantus). Further investigations of the effect of the therapy with a biphasic insulin and new possibilities of oral therapy in type 2 diabetes were mentioned. It was stressed that actually, a lot of proposals of new drugs and new reports are observed. These reports are, however, frequently conference news and not complete reports and the proposals require further examinations and observations for a confirmed appreciation of their efficacy and safety.

Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome.

We report an 8-year-old proband with severe motor and intellectual disability presenting a variety of dysmorphic features such as microcephaly, prominent glabella (ridged metopic suture) and congenital distal limb contractures. As well as panhypopituitary insufficiency, brain defects, e.g. agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypoplasia, were diagnosed. Genetic examination revealed a normal karyotype and excluded Wolf-Hirschhorn syndrome and subtelomeric deletions. Chitayat-Hall syndrome was diagnosed based on clinical traits.

Progress in the treatment of diabetes type 1 and 2.

In the last years an increased incidence of diabetes was observed in the whole world. It was estimated that in the year 2030 there will be around 300 million patients with diabetes. Diabetes, especially not adequately treated, develops serious chronic complications. The main aim of the therapy in diabetes is, as we know, to achieve a stable normoglycemia, normal levels of HbA1c, the prevention or inhibition of the progression of late consequences of diabetes. In the paper the authors discuss new more perfect insulins which enable a better imitation of the physiological rhythm of insulin secretion, the therapy with personal insulin pumps, the more perfect equipment for the appreciation and monitoring of the metabolic control. The authors present also the actual data about the transplantation of the pancreas, the islets and recently the beta cells alone. They enumerate also the inclusion and exclusion criteria for transplantation. The gene therapy is mentioned. The present possibilities of the therapy of type 2 diabetes are presented. It is stressed that in the year 2006 for the first time an expert crew was appointed to elaborate a prevention and therapeutical program for diabetes in Poland. The program was accepted by the Ministry of Health for realisation in the years 2006-2008. The authors conclude that in the recent years an enormous progress in the prevention, diagnostics and therapy in diabetes has been achieved. However, the time which should elapse to the moment when the complete success would be achieved is dependent on the further scientific progress the intensity of investigations in the whole world.

[Precocious puberty and von Recklinghausen's disease]. / Przedwczesne dojrzewanie plciowe w przebiegu choroby Recklinghausena.

Von Recklinghausen's disease belongs to a group of neurocutaneous syndromes and is characterised by skin, nerve and bone abnormalities. We present a case of von Recklinghausen's disease and precocious puberty in 7-year-old boy. At the age of three café au lait spots on the skin and an incranial tumour situated near the optic chiasm--qualified as inoperable--were discovered. At the age of 7 first signs of precocious puberty appeared (pubic hair P3 and enlargement of the testes (15 ml) and penis). Laboratory measurements included: LH 7.5 mIU/ml, FSH 1.1 mIU/ml, testosterone 183 ng/ml, assessment of bone age: 9 years. The response to LHRH stimulation was characteristic for true precocious puberty (LH 15.9 mIU/ml and FSH 1.5 mIU/ml after 30 minutes). The MRI of the brain showed a tumour of the suprasellar region with compression of pituitary stalk. True precocious puberty was diagnosed. Treatment with Diphereline was introduced. At present the boy is 9 years old and has been treated with Diphereline for 16 months. The volume of the testicles has decreased to 7 ml and loss of pubic hair was noted. The MRI does not show any progression in tumour growth. The authors would like to underline the need of close observation of children with von Reclinghausen disease with regard to possibility of uncovering true precocious puberty which is critical for rapid diagnosis and introduction of correct treatment.

[Incidentaloma in a 16 years old girl -- 2 year observation]. / Incydentaloma u 16 letniej dziewczynki -- obserwacja dwuletnia.

Adenomas of the hypophysis are tumors of the CNS which are on the third place in the frequency of appearance, which cause disturbances of hypophyseal function. In children incidentaloma is seldom observed. The authors present a 16-year-old girl who was admitted to the clinic because of amenorrhoea and an increased growth velocity during the last year. The MRI examination of the hypophysis proved a hypophyseal adenoma. Hormonal laboratory examinations do not show any hormonal activity of the observation. The girl's case is presented because the diagnosis of an incidentaloma is exceptionally rare in this age group.

[Transplantation in diabetes type 1--current problems and perspectives]. / Przeszczepy w cukrzycy typu 1--aktualne problemy i perspektywy.

Diabetes type 1 is, as we know, a chronic progressive disease, which requires a substitutional therapy with insulin for the whole life. The cause is a definite destruction of the pancreatic beta cells. For many years there have been intensive investigations on the possibility to obtain a complete, persistent withdrawal of the symptoms. Substitution of the destroyed, not active cells, could take place after transplantation of the whole pancreas, transplantation of pancreatic islets or transplantation of stem cells. This is now the only method which may cause an independence from exogenous insulin, persistent normoglycemia, normal HbA1c level, without risk of hypoglycemia. Pancreas and islets transplantations, however, are connected till now with the necessity of an immunosuppressive therapy for the whole life, with the toxicity of the drugs, incidence of frequent infections and malignancy. Pancreas transplantation is a serious surgical intervention, connected with numerous risks and complications, considerably less risk appears in islet cell transplantations. Since 2000 exclusively islet cell transplantations have been performed. One of the leading centers is Edmonton, where professor Shapiro prepared the so called. Edmonton protocol which is characterized by using corticosteroid-free immunosuppressive drugs, islet cells from two or more donors, repeated till the attainment of insulin dependence. A problem now is that the islets are obtained from cadavers. Therefore intensive research is conducted for alternative sources of beta cells. At this moment it is mostly preferred for receiving a sufficient number of insulin producing cells to develop stem cells with a subsequent differentiation to insulin producing cells. The mentioned cells have an unlimited ability of reproduction, in this case also immunosuppressive therapy is not necessary. Alternative sources of beta cells are cells achieved on the genetic engineering, embryonic or adult somatic stem cells. It is however important to stress, that adult stem cells as insulin producing cells are not unequivocally identified. For obtaining better, permanent results after transplantation the following are important: optimalization of "islands growth" in the liver, prevention of the early inflammations, further development of highly selective, well tolerated, corticosteroid-free immunosuppressive drugs, identification of rejecting markers, induction of immunotolerance, micro- and macro-capsulation of the islets to protect the recipient against the immunological attack. Several multicenter studies in important scientific centers are opened, there is also Juvenile Research Foundation International. In spite of a permanent progress there are still many important problems to solve. It is necessary to institute further multicenter, international research to ascertain the effect of transplantation concerning the normalisation of glycemia, prevention or inhibition of the progress of diabetic complications and to prolong the life span in patients with type 1 diabetes after transplantation.