Introduction of continuous glucose monitoring (CGM) is a key factor in decreasing HbA1c in war refugee children with type 1 diabetes.

AIMS: Our aim was to describe the changes in therapy and diabetes control in Ukrainian war refugee children with diabetes (CwD) during the first year of their stay in Czechia. METHODS: A total of 124 CwD (62 male, 62 female) were enrolled into this observational study. Anthropometric, laboratory and diabetes management data were acquired at baseline and at 3 months intervals for 12 months. All CwD were offered a CGM device during their first visit. Generalized Estimating Equation models were fitted in order to estimate the dynamics of studied characteristics. RESULTS: Median baseline HbA1c was 58 mmol/mol (IQR [48; 73]mmol/mol) (7.5 %, IQR[6.5;8.8]%). The HbA1c decreased significantly throughout the course of the study at a pace of - 2.2 mmol/mol (-0.2 %pt.) per visit (P = 0.01, CI[-3.2;-1.1]). The pace of the decrease in the average HbA1c was significantly higher in the group of CwD who received CGM in Czechia than in those who already had it from Ukraine by 2.9 mmol/mol (0.27 %pt.) per visit (P < 0.001, CI [-4.4; -1.3]). CONCLUSIONS: The steepest decrease in HbA1c was observed in CwD with newly initiated CGM underlining its vital role in improving the glucose control of CwD regardless of their background.

Papel de la PET/TC con 18F-DOPA en el diagnóstico de la forma congénita focal del hiperinsulinismo en niños / The role of 18F-DOPA PET/CT in the diagnosis of the congenital focal form of hyperinsulinism in children

ANTECEDENTES: El hiperinsulinismo congénito (HIC) es una enfermedad neuroendocrina con anomalías focales o difusas en el páncreas. Mientras que las formas difusas resistentes a los medicamentos requieren una pancreatectomía casi total o una farmacoterapia prolongada, el HIC focal podría ser tratado por resección quirúrgica dirigida. Por tanto, evaluamos la utilidad del 18F-DOPA PET/TC para identificar la forma pancreática focal. Objetivos y metodología: Diecinueve niños (11 niños y 8 niñas de 2 a 54meses de edad) con signos clínicos de HIC neonatal y exámenes genéticos positivos fueron registrados en el estudio. Después de la administración intravenosa del 18F-DOPA, una primera PET y posteriormente otra PET/TC cubriendo longitudinalmente la región toracoabdominal fueron llevadas a cabo. Ambas adquisiciones fueron realizadas en modo dinámico para permitir la exclusión de imágenes con artefactos de movimiento. Los valores de absorción estandarizados fueron ajustados al peso corporal (SUVbw). El hallazgo fue considerado como focal cuando la proporción de SUVbwmax entre la región sospechosa y el resto del páncreas fue mayor que 1,2. RESULTADOS: Las formas focales fueron registradas en 10/19 niños y 4 de ellos se sometieron a una resección quirúrgica con recuperación completa. La captación focal fue significativamente mayor que la captación en el tejido pancreático normal (p = 0,0059). Las formas focales y difusas del HIC no difieren significativamente en la captación del tejido pancreático normal. No encontramos ninguna ventaja en la medición de la relación SUVbwmean en comparación con la relación SUVbwmax (p = 0,50). CONCLUSIONES: 18F-DOPA PET/TC es una herramienta útil para la localización de HIC focal y la planificación de un tratamiento quirúrgico

BACKGROUND: Congenital hyperinsulinism (CHI) is a neuroendocrine disease with focal or diffuse abnormalities in pancreas. While drug-resistant diffuse forms require near-total pancreatectomy or prolonged pharmacotherapy, focal CHI may be treated by targeted surgical resection. We evaluated the usefulness of 18F-DOPA PET/CT to identify the focal pancreatic form. Subjects and methods: Nineteen children (11 boys, 8 girls, aged 2-54 months) with clinical signs of neonatal CHI and positive genetic examinations were enrolled in the study. After i.v. administration of 18F-DOPA, early PET and late PET/CT acquisition covering one-bed length over thoraco-abdominal region were performed. Both acquisitions were done in dynamic mode to allow exclusion of frames with motion artefacts. Standardized uptake values were adjusted to bodyweight (SUVbw). The finding was considered as focal when the ratio of SUVbwmax between the suspicious region and the rest of pancreas was greater than 1.2. RESULTS: Focal forms were recorded in 10/19 children and 4 of them underwent surgical resection with complete recovery. Focal uptake was significantly higher than the uptake in the normal pancreatic tissue (p = 0.0059). Focal and diffuse forms of CHI did not differ significantly in normal pancreatic tissue uptake. We found no advantage in the measurement of SUVbwmean ratio compared to SUVbwmax ratio (p = 0.50). CONCLUSION: 18F-DOPA PET/CT is a useful tool for the localization of focal CHI and planning of surgical treatment

The role of 18F-DOPA PET/CT in the diagnosis of the congenital focal form of hyperinsulinism in children. / Papel de la PET/TC con 18F-DOPA en el diagnóstico de la forma congénita focal del hiperinsulinismo en niños.

BACKGROUND: Congenital hyperinsulinism (CHI) is a neuroendocrine disease with focal or diffuse abnormalities in pancreas. While drug-resistant diffuse forms require near-total pancreatectomy or prolonged pharmacotherapy, focal CHI may be treated by targeted surgical resection. We evaluated the usefulness of 18F-DOPA PET/CT to identify the focal pancreatic form. SUBJECTS AND METHODS: Nineteen children (11 boys, 8 girls, aged 2-54 months) with clinical signs of neonatal CHI and positive genetic examinations were enrolled in the study. After i.v. administration of 18F-DOPA, early PET and late PET/CT acquisition covering one-bed length over thoraco-abdominal region were performed. Both acquisitions were done in dynamic mode to allow exclusion of frames with motion artefacts. Standardized uptake values were adjusted to bodyweight (SUVbw). The finding was considered as focal when the ratio of SUVbwmax between the suspicious region and the rest of pancreas was greater than 1.2. RESULTS: Focal forms were recorded in 10/19 children and 4 of them underwent surgical resection with complete recovery. Focal uptake was significantly higher than the uptake in the normal pancreatic tissue (p=0.0059). Focal and diffuse forms of CHI did not differ significantly in normal pancreatic tissue uptake. We found no advantage in the measurement of SUVbwmean ratio compared to SUVbwmax ratio (p=0.50). CONCLUSION: 18F-DOPA PET/CT is a useful tool for the localization of focal CHI and planning of surgical treatment.

45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology.

A child born with ambiguous genitalia (Prader III) was found to have a 45,X[92.2%]/46,X,psu dic(Y)(p12)[7.8%] karyotype in peripheral blood lymphocytes. The testosterone level was consistent with that of a normal male; however, gonadotropins were elevated. Ultrasound and endoscopy of the urogenital sinus revealed well-developed Müllerian structures. At 3.5 months, the child was operated for right-sided incarcerated hernia, and the gonad situated at the inguinal region was biopsied and classified as primitive testis. Based on the presence of Müllerian structures, anatomy of external genitalia and wish of the parents, the child was assigned female gender. She underwent removal of the left gonad at 4 months during another acute surgery; histology was similar to the right gonad. The rest of the right gonad was removed at 16 months, and feminizing genitoplasty took place at 3 years. The right and left gonad contained 28 and 22% of cells with a Y chromosome, respectively. During further histological examination, dysgenetic features of the gonads were discovered. Some germ cells displayed abnormal development based on the specific expression of immunohistochemical markers (OCT3/4, TSPY, KITLG), indicating a possible risk for future malignant germ cell tumor development. Contribution of the 45,X cell line to the phenotype was also observed: the patient developed celiac disease, and her growth pattern resembled that of Turner syndrome responding to growth hormone treatment.

[Bilateral neuroretinitis as an ocular manifestation of cat scratch disease in 9-year-old boy. A case report]. / Oboustranná neuroretinitis jako projev nemoci kocicího skrábnutí u devítiletého chlapce.

PURPOSE: 1. To highlight a less-known clinical entity neuroretinitis and the need for differentiation of this entity from the other retinal disease that can mimic. 2. To be familiar with ocular finding in Cat scratch disease. CASE REPORT: Authors describe a clinical course of bilateral neuroretinitis in a 9-year-old boy who was referred to our clinic with painless decreased corrected visual aquity in the right eye (6/18) and in the left eye (6/9). Fundus examination disclosed bilateral stellate maculopathy. Patient had a history of close contact with a cat. Serologic tests for infective disease confirmed the presence of IgG antibody against Bartonella henselae (1:64). Specific antibiotic treatment with bacteriostatical activity against Bartonella henselae restored functional and anatomical changes in both of eyes within two month. RESULTS: Noninfective etiology of bilateral neuroretinitis was essential to exclude in differential diagnosis. Diagnosis of Cat scratch disease was based on positive epidemiological diagnosis, bilateral manifestation of neuroretinitis, high IgG antibody titre against Bartonella henselae and successful treatment of this disease after specific antibiotic therapy. CONCLUSION: Neuroretinitis is the most common ocular manifestation of cat scratch disease. Familiarity with differential diagnosis of neuroretinitis is essential for prompt causal treatment initialisation.

Healthy first-degree relatives of patients with type 1 diabetes exhibit significant differences in basal gene expression pattern of immunocompetent cells compared to controls: expression pattern as predeterminant of autoimmune diabetes.

Expression features of genetic landscape which predispose an individual to the type 1 diabetes are poorly understood. We addressed this question by comparing gene expression profile of freshly isolated peripheral blood mononuclear cells isolated from either patients with type 1 diabetes (T1D), or their first-degree relatives or healthy controls. Our aim was to establish whether a distinct type of 'prodiabetogenic' gene expression pattern in the group of relatives of patients with T1D could be identified. Whole-genome expression profile of nine patients with T1D, their ten first-degree relatives and ten healthy controls was analysed using the human high-density expression microarray chip. Functional aspects of candidate genes were assessed using the MetaCore software. The highest number of differentially expressed genes (547) was found between the autoantibody-negative healthy relatives and the healthy controls. Some of them represent genes critically involved in the regulation of innate immune responses such as TLR signalling and CCR3 signalling in eosinophiles, humoral immune reactions such as BCR pathway, costimulation and cytokine responses mediated by CD137, CD40 and CD28 signalling and IL-1 proinflammatory pathway. Our data demonstrate that expression profile of healthy relatives of patients with T1D is clearly distinct from the pattern found in the healthy controls. That especially concerns differential activation status of genes and signalling pathways involved in proinflammatory processes and those of innate immunity and humoral reactivity. Thus, we posit that the study of the healthy relative's gene expression pattern is instrumental for the identification of novel markers associated with the development of diabetes.