A novel pathogenic IGSF1 variant in a patient with GH and TSH deficiency diagnosed by high IGF-I values at transition to adult care

IGSF1 deficiency is a rare X-linked condition characterized by central hypothyroidism and a wide variety of other clinical features with variable prevalence, including a delayed pubertal testosterone rise and growth spurt in the context of normal or accelerated testicular growth, and adult macroorchidism with relatively low serum testosterone concentrations. Other features include increased waist circumference, attention deficit, prolactin deficiency and transient partial growth hormone (GH) deficiency in childhood, contrasting with an increased GH secretion in adulthood. Patients with this disorder are not detected shortly after birth if neonatal screening programs are based on thyroid-stimulating hormone (TSH) concentrations. A 13.2-year-old male patient was referred to pediatric endocrinology for evaluation of short stature. He was born large for gestational age into a nonconsanguineous family. During work-up for short stature, deficiencies of TSH, prolactin and GH were detected, leading to treatment with levothyroxine and GH. At 16.9 years, GH treatment was stopped and during transition to adult care, his insulin-like growth factor 1 level was above the normal range. This prompted an analysis of IGSF1, in which a novel hemizygous variant causing a stop codon at c.3559C>T (p.Q1187*) was found, confirming the diagnosis of IGSF1 deficiency syndrome. In this report, we describe his clinical and hormonal characteristics at presentation and during long-term follow-up.Developmen

Entomological surveillance and spatiotemporal risk assessment of sand fly-borne diseases in Cyprus

Visceral and cutaneous leishmaniases are important public health concerns in Cyprus. Although the diseases, historically prevalent on the island, were nearly eradicated by 1996, an increase in frequency and geographical spread has recently been recorded. Upward trends in leishmaniasis prevalence have largely been attributed to environmental changes that amplify the abundance and activity of its vector, the phlebotomine sand flies. Here, we performed an extensive field study across the island to map the sand fly fauna and compared the presence and distribution of the species found with historical records. We mapped the habitat preferences of Phlebotomus papatasi and P. tobbi, two medically important species, and predicted the seasonal abundance of P. papatasi at unprecedented spatiotemporal resolution using a climate-sensitive population dynamics model driven by high-resolution meteorological forecasting. Our compendium holds a record of 18 species and the locations of a subset, including those of potential public and veterinary health concern. We confirmed that P. papatasi is widespread, especially in densely urbanized areas, and predicted that its abundance uniformly peaks across the island at the end of summer. We identified potential hotspots of P. papatasi activity even after this peak. Our results form a foundation to inform public health planning and contribute to the development of effective, efficient, and environmentally sensitive strategies to control sand fly populations and prevent sand fly-borne diseases

Assessment of Cardiovascular Risk in Paediatric Peritoneal Dialysis Patients: A Turkish Pediatric Peritoneal Dialysis Study Group (Tupepd) Report

Methods. We aimed to clarify arteriosclerotic risk and to document possible relationships between cardiovascular risk factors and echocardiographic parameters in paediatric peritoneal dialysis (PD) patients. M-mode/Doppler/tissue Doppler echocardiographic studies and lipid/lipoproteins, homocysteine, high-sensitivity C-reactive protein (HS-CRP) levels and carotid intima-media thickness (CIMT) were determined in 59 patients (age: 14.2 +/- 4.5 years) and in 36 healthy subjects. Results. Structural and functional cardiac abnormalities were observed in patients on maintenance dialysis. Increased left ventricular mass index (LVMI, P = 0.000), relative wall thickness (P = 0.000), myocardial performance index (MPI, P = 0.000) were documented in the patients. Lipoprotein (a) (P = 0.000), homocysteine (P = 0.001), HS-CRP (P = 0.000) and CIMT (P = 0.000) were significantly elevated in the patients. Left ventricular hypertrophy (LVH) was prevalent in 68% of the patients. Patients with LVH had higher levels of HS-CRP (P = 0.001) and CIMT (P = 0.028) than those without LVH. Haemoglobin was an independent predictor of LVMI (beta: -8.9, P = 0.001), while residual diuresis and CIMT were independent predictors of diastolic dysfunction (beta: -0.45, P = 0.034 and beta: 5.90, P = 0.008, respectively). Albumin (beta: -0.72, P = 0.018) and Kt/V urea (beta: -0.48, P = 0.012) were significant predictors of CIMT. There were positive correlations between LVMI and CIMT. HS-CRP was positively correlated with LVMI as well as CIMT. Conclusions. Elevated levels of atherosclerotic/inflammatory risk factors, low haemoglobin levels and loss of residual renal function and their negative effects on heart are of remarkable importance in paediatric patients on maintenance peritoneal dialysis. Achieving recommended targets for haemoglobin, blood pressure and Kt/V urea, preserving residual renal function as well as managing inflammation and subsequent arteriosclerosis is obviously essential to improve the patients' prognosis.WoSScopu