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Inappropriate antidiuretic hormone syndrome (SIADH) may develop after intracranial surgery. SIADH in the pediatric age group is usually encountered in patients with an intracranial mass both before and after surgery. Fluid restriction is the standard therapy in SIADH. However, a resistant, hyponatremic pattern may be encountered in some cases. Vaptans have been recently introduced for treatment of hyponatremia due to SIADH. There is inadequate data concerning tolvaptan treatment in pediatric patients. We present a 13 year-old female with SIADH of triphasic episode who was transferred to our clinic after surgery for craniopharyngioma. Resistant hyponatremia did not resolve despite fluid restriction and hypertonic saline support. The patient responded rapidly to a single dose of tolvaptan, with no adverse effect, which resulted in successful control of her SIADH.

Neonatal screening for congenital adrenal hyperplasia (CAH) was implemented nationwide in Türkiye in 2022. The performance of this screening program in its first year was assessed. This retrospective, descriptive study included neonates born in Türkiye between January 1 and December 31, 2022, with gestational age ≥32 weeks and birth weight ≥1500 grams. The screening protocol used a two-tier approach. In the first step, 17α-hydroxyprogesterone (17-OHP) levels were measured using fluoroimmunoassay (FIA) in dried blood spots (DBS) collected at 3-5 days of life. Infants with positive results underwent second-tier testing using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-DF), cortisol (F), and 11-deoxycortisol (S) in DBS. Those with a steroid ratio (21-DF+17-OHP)/F ≥1 were referred to pediatric endocrinology clinics for diagnostic evaluation. Of 1,096,069 neonates screened (including 149,652 refugees), second-tier tests were performed on 70,455 (6.88%) infants, and 3,429 (0.27%) were referred to clinics, resulting in 91 confirmed cases of classical 21-hydroxylase deficiency (21-OHD) CAH (77; salt-wasting, 14; simple virilizing). Twenty-two patients were diagnosed with non-classical 21-OHD CAH. The frequency of classical 21-OHD was 1 in 12,044. The first-tier FIA-17-OHP values were below 17.5 ng/mL in 99.8% of healthy neonates with ≥36 weeks gestation or ≥2500 grams and below 50 ng/mL in those with 32-36 weeks or 1500-2500 grams. Neonatal CAH screening facilitates early diagnosis of 21-OHD and improved patient care. Using refined cut-offs may reduce referrals six-fold and eliminate second-tier testing for 95% of infants. Ongoing evaluation can enhance the efficiency and cost-effectiveness of the screening protocol.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder that causes systemic autoimmunity resulting from a mutation of the forkhead box protein 3 gene (FOXP3). A 2-year-old boy, was referred to the hospital due to vomiting and fever when he was 21 days old. On physical examination the patient was severely dehydrated, and his laboratory test results showed hyperglycemia and metabolic acidosis. Upon the continuance of the hyperglycemia which caused the patient to receive permanent insulin treatment, the patient was diagnosed with neonatal diabetes mellitus. Here, we report a 2-year-old boy with early-onset IPEX syndrome due to a c.1040G > A (p.R347H) mutation in exon 11 of the FOXP3 gene. Although the patient had missense mutation in his FOXP3 gene, he did not have other immunodysregulation symptoms. IPEX syndrome should be kept in mind in all the cases of associated neonatal diabetes mellitus in male neonates or infants.

Artificial intelligence (AI) is rapidly transforming anaesthesiology through advances in machine learning, deep learning, and large language models. AI-driven tools now contribute to nearly every phase of perioperative care, including preoperative risk stratification, intraoperative monitoring, imaging interpretation, airway assessment, regional anaesthesia, and critical care. Applications such as automated American Society of Anesthesiologists classification, prediction of postoperative complications and intensive care unit needs, electroencephalography-based depth-of-anaesthesia estimation, and proactive haemodynamic management are reshaping clinical decision-making. AI-augmented echocardiography enhances chamber recognition and functional measurements, whereas computer vision systems support airway evaluation and ultrasound-guided regional anaesthesia by providing real-time anatomical identification and facilitating training. In critical care, AI models facilitate the early detection of sepsis, organ dysfunction, and haemodynamic instability, while improving workflow efficiency and resource allocation. AI is increasingly used in academic writing, data processing, and medical education, offering opportunities for personalised learning and simulation but raising concerns about accuracy and hallucinations. In this review, we aimed to summarise the current applications of AI in anaesthesiology, highlight the methodological, ethical, and practical challenges that limit its integration, and discuss future directions for its safe and effective adoption in perioperative care.

Superficial cervical plexus block (SCPB) has been widely utilized in anesthesia and analgesia management for head and neck surgeries. This case series aims to share our experience with SCPB for postoperative analgesia in patients undergoing supraglottic laryngectomy, bilateral neck dissection, and tracheostomy due to laryngeal carcinoma. SCPB was administered to 10 patients aged over 18 years with an ASA score of 2 or 3, who underwent supraglottic laryngectomy, bilateral neck dissection, and tracheostomy between January 15, 2023, and March 15, 2023. The blocks were performed using ultrasonography guidance with 0.1 mL/kg of 0.25% bupivacaine. Routine anesthesia induction was followed by maintenance with 2% sevoflurane and intravenous remifentanil infusion. Postoperative pain was assessed using the numeric rating scale (NRS) at 1, 6, 12, and 24 hours. The average NRS scores were 1.6 at 1 hour, 2.3 at 6 hours, 2.4 at 12 hours, and 2.4 at 24 hours postoperatively. SCPB was effective in reducing postoperative pain, with minimal additional analgesia required. No complications related to SCPB were observed.SCPB provides effective postoperative pain management for patients undergoing supraglottic laryngectomy and bilateral neck dissection, with a favorable safety profile. However, further studies with larger sample sizes and comparison groups are needed to validate these findings.

The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. Using a candidate gene approach, we screened 52 IHH/KS patients. We identified three novel (IVS3-1G>C and p.W2X, p.R209C) FGFR1 gene mutations. Despite predictive null protein function, patients from the novel mutation families had normosmic IHH without non-reproductive phenotype. These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.

Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face of low sex steroid hormone concentrations. IHH is practically divided into two major groups according to the olfactory function: normal sense of smell (normosmia) nIHH, and reduced sense of smell (hyposmia/anosmia) Kallmann syndrome (KS). Although mutations in more than 50 genes have been associated with IHH so far, only half of those cases were explained by gene mutations. Various combinations of deleterious variants in different genes as causes of IHH have been increasingly recognized (Oligogenic etiology). In addition to the complexity of inheritance patterns, the spontaneous or sex steroid-induced clinical recovery from IHH, which is seen in approximately 10–20% of cases, blurs further the phenotype/genotype relationship in IHH, and poses challenging steps in new IHH gene discovery. Beyond helping for clinical diagnostics, identification of the genetic mutations in the pathophysiology of IHH is hoped to shed light on the central governance of the hypothalamo-pituitary-gonadal axis through life stages. This review aims to summarize the genetic etiology of IHH and discuss the clinical and physiological ramifications of the gene mutations.

Introduction: The aim of this study was to assess the frequency of urolithiasis and risk factors for urolithiasis in home ventilated patients with tracheostomy. Methods: We retrospectively analyzed 30 home-ventilated patients with tracheostomy who were followed up at our pediatric intensive care unit from January 2014 to December 2015. Data analyzed included age, gender, underlying disease for hospitalization, drugs, nutrition method, nutrition solution, biochemical parameters, 25(OH) vitamin D and paratyroid hormone levels, urinary calcium/creatinine ratio, and urinary ultrasonography results. Results: A total of 30 patients [9 female (30%), 21 male (70%)] with a median age of 90.06 months (15-197) were evaluated in this study. According to the motor function classification system, 33.3% (10/30) of patients were class 4 and 66.7% (20/30) were class 5 and all patients were immobile. Upper urinary stone was detected with urinary ultrasonography in 30% (9/30) of patients. Urinary calcium/creatinine ratio was >0.21 in 56.7% (17/30) of patients. Age-related urinary calcium/creatinine ratio was above the normal limits in 66.6% (20/30) of patients. The mean daily calcium intake was 54±82 (336-1200) mg/day and vitamin D intake was 25.9±10.6 (7.8-51.4) μg/day. Blood calcium was normal (8.5-10.5 mg/dL) in all patients. Blood 25(OH) vitamin D level was >30 ng/mL in 8 patients, 20-30 ng/mL in 13 patients and <20 ng/mL in 9 patients. Conclusion: In our study, immobilization was the most important factor for urolithiasis in home ventilated patients with tracheostomy and these patients need to be followed closely in terms of accompanying metabolic disorders.

Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in . Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females and hypocortisolism. Hyponatremia and hyperkalemia are among the common biochemical findings. Familial hypokalemic periodic paralysis (FHPP) is a rare disorder in which affected individuals may experience paralytic episodes associated with hypokalemia, caused by pathogenic variants in or . A 14-year-old female, who had been diagnosed with classical 21-hydroxylase deficiency and treated with hydrocortisone and fludrocortisone since early infancy, presented with acute onset weakness. The laboratory results revealed a remarkably low serum potassium level. The family history revealed that both her father and uncle had the same hypokalemic symptoms, which suggested an FHPP diagnosis. We found two previously reported homozygous variants in the (p.Ile173Asn) and (p.Arg672His) genes in the patient. Therefore, diagnoses of simple virilising 21-hydroxylase deficiency and FHPP were genetically confirmed. Here, FPHH and chronic overtreatment with fludrocortisone may explain the presentation of our patient with severe hypokalemia. The family’s medical history, which is always a valuable clue, should be investigated in detail since rare inherited conditions may co-occur in geographies where consanguineous marriages are common and the genetic pool is diverse. In patients with CAH, care should be taken to avoid overtreatment with fludrocortisone. Androgens may have triggered the hypokalemic attack in FHPP, as supported in a previous study.

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Several semaphorins are known potent modulators of GnRH, olfactory, and vomeronasal system development. In this study, we investigated the role of Semaphorin-3F signaling in the etiology of IHH. We screened 216 IHH patients by exome sequencing. We transiently transfected HEK293T cells with plasmids encoding wild type (WT) or corresponding variants to investigate the functional consequences. We performed fluorescent IHC to assess SEMA3F and PLXNA3 expression both in the nasal region and at the nasal/forebrain junction during the early human fetal development. We identified ten rare missense variants in SEMA3F and PLXNA3 in 15 patients from 11 independent families. Most of these variants were predicted to be deleterious by functional assays. SEMA3F and PLXNA3 are both expressed along the olfactory nerve and intracranial projection of the vomeronasal nerve/terminal nerve. PLXNA1-A3 are expressed in the early migratory GnRH neurons. SEMA3F signaling through PLXNA1-A3 is involved in the guidance of GnRH neurons and of olfactory and vomeronasal nerve fibers in humans. Overall, our findings suggest that Semaphorin-3F signaling insufficiency contributes to the pathogenesis of IHH.