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Background: Arginine vasopressin deficiency (central diabetes insipidus) is defined as a reduction in the release of arginine vasopressin (AVP) resulting in a variable degree of polyuria. Partial empty sella refers to an enlarged sella turcica that is not completely filled by pituitary gland. It can be either primary or secondary and its manifestation ranges from asymptomatic cases to isolated posterior pituitary, isolated anterior pituitary or both anterior and posterior pituitary dysfunctions. Diabetes insipidus caused by a partially empty sella is rare. Case presentation: The patient, an 18-year-old Ethiopian woman who presented with long standing headache, increased urination, increased thirst, absence of menses and weight loss. Urine and serum osmolality was done and suggested diabetes insipidus. On further workup, brain magnetic resonant imaging was done and partially empty sella was diagnosed. Conclusion: Diabetes insipidus secondary to partially empty sella is uncommon. In patients presenting with headache and anterior or posterior pituitary dysfunction, empty sella should be considered, whether partial or complete. [ABSTRACT FROM AUTHOR]

Aim: To investigate the role of autonomic nervous system in subpopulations of children with enuresis. Methods: We included 35 children with enuresis, divided in children with (17) and without nocturnal polyuria (18) and 43 healthy controls. For all participants hormones and neurotransmitters were measured. Patients and controls wore a sleep tracker device and children with enuresis underwent a 24 h blood pressure monitoring, nocturnal urine output measurement and uroflowmetry. Results: Children with enuresis had lower than controls copeptin and aldosterone, with the latter being more prominent in patients without nocturnal polyuria. Dopamine was lower in patients without nocturnal polyuria compared with patients with nocturnal polyuria. Children without polyuria experienced episodes only during NREM sleep, whereas in children with polyuria episodes occurred in both REM and NREM sleep. Children with enuresis experienced a non‐dipping phenomenon during sleep which was more prominent in the group without polyuria. Conclusion: In patients with nocturnal polyuria, nocturnal enuresis is associated with sympathetic hyperactivity which results in pressure polyuria and significantly lower systolic dipping during sleep. On the contrary, in children without nocturnal polyuria, it is mostly associated with bladder overactivity due to parasympathetic overstimulation as demonstrated by the NREM‐related enuretic episodes and the lower aldosterone and dopamine levels. [ABSTRACT FROM AUTHOR]

Introduction: Immunotherapy has a crucial role in the current treatment of multiple malignancies. Albeit described as rare, new onset autoimmune diabetes is a potentially life-threatening complication of programmed cell death-1 (PD-1) inhibitors, such as pembrolizumab, and its predisposing factors and pathological mechanism are yet to be clarified. Case Report: We present a case of a 72-year-old man with a high-grade bladder carcinoma undergoing pembrolizumab treatment. He had no personal or family history of diabetes mellitus but was diagnosed with primary hypothyroidism four months after starting pembrolizumab. Two years after starting pembrolizumab, he presented in the emergency department due to abdominal pain, anorexia, polydipsia, polyuria and vomiting over the preceding five days and he met criteria for severe diabetic ketoacidosis (DKA). Three days prior to his admission, he had received prednisolone therapy for suspected hypersensitivity related to a contrast-enhanced imaging that he performed. Management & Outcome: Prompt treatment for DKA was started, with transition to insulin basal-bolus therapy after DKA resolution, with progressive glycaemic stabilization. Further investigation revealed low C-peptide levels (0.07 ng/dL, with a fasting blood glucose of 288 mg/dL), HbA1c 9.2% and positive anti-IA2 antibodies, which allowed the diagnosis of new-onset autoimmune diabetes. Pembrolizumab was transiently suspended, and the patient resumed treatment after glycaemic profile optimization under multiple daily insulin administrations two months later. Discussion: This case highlights the importance of clinical suspicion and glycaemic monitoring as an integral part of treatment protocols in patients on pembrolizumab and other immune checkpoint inhibitors. Additional research and investigation into the underlying mechanisms of this condition are necessary to identify potential screening tests for individuals at higher risk of developing DM and to guide the implementation of management and preventive strategies for ketoacidosis complication. [ABSTRACT FROM AUTHOR]

Central diabetes insipidus (CDI) is a disorder in the pediatric population resulting from antidiuretic hormone deficiency. The excessive production of dilute urine characterizes it and manifests with polyuria, nocturia, and polydipsia. The diagnostics of CDI is often challenging, especially concerning the underlying condition of the disease. This article highlights the diverse clinical presentation of children with CDI and diagnostic difficulties among patients with polyuria and polydipsia. The article also reviews the etiology, symptoms, diagnostic workup, and management of CDI. We present 4 pediatric patients (aged 3-13.5 years) diagnosed with CDI of different etiology: 1 due to septo-optic dysplasia/optic nerve hypoplasia and 3 due to acquired processes such as Langerhans cell histiocytosis and germ cell tumor in 2 patients. Central diabetes insipidus was the first manifestation of a tumor or granuloma in all presented patients with acquired pathology. The patients sometimes need long-term follow-up to establish the proper final diagnosis. [ABSTRACT FROM AUTHOR]

Multicystic dysplastic kidney (MCDK) is a congenital renal disease characterized by variable-sized noncommunicative cysts, impeding parenchymal development and functionality. Renal capabilities are relative to the functionality of the contralateral kidney and response to management. Unilateral and isolated cases are often asymptomatic with more positive outcomes, while severe bilateral derangements have a high mortality rate. We present a case of left-sided MCDK and right-sided renal dysplasia diagnosed at a nontertiary center. In addition, we offer a review of the epidemiology, epigenetics, and pathophysiology of MCDK. A concise discussion of prenatal, intrapartum, and postnatal renal function surveillance methods is presented to assist neonatal healthcare providers in collaborating with pediatric nephrology and urology specialists. [ABSTRACT FROM AUTHOR]

Background: Central diabetes insipidus (CDI) is rare in children. About 30 - 50% of cases are idiopathic. Early and accurate diagnosis are crucial for safe and effective treatment. This is the first report of Central diabetes insipidus in a child in Nigeria. Case report: We report a case of central diabetes insipidus in a female toddler who presented at the University of Port Harcourt Teaching Hospital with polydipsia and polyuria with a urine specific gravity of 1.000 and normal blood sugar. The diagnosis of CDI was confirmed by her inability to concentrate urine after a water deprivation test followed by an increase in urine osmolality from 59mOsm/kg to 158mOsm/kg and serum osmolality from 286mOsm/kg to 321Osm/kg following intravenous administration of desmopressin. The patient responded well to oral desmopressin. Conclusion: Central diabetes insipidus occurs in Nigerian children and responds to oral desmopressin. We recommended high index of suspicion in children with polyuria and polydipsia.

Background: Arginine vasopressin deficiency (AVP-D) can occur due to various conditions, so clarifying its cause is important for deciding treatment strategy. Although several cases of AVP-D following coronavirus disease 2019(COVID-19) infection or COVID-19 vaccination have been reported, the diagnosis of the underlying disease has not been reported in most cases. Case presentation: A 75-year-old woman who presented with polydipsia and polyuria 9 weeks after contracting COVID-19 and 5 weeks after receiving the SARS-CoV-2 vaccination, leading to the final diagnosis of AVP-D 8 months after the first appearance of symptoms. Interestingly, pituitary magnetic resonance imaging (MRI) still revealed stalk enlargement frequently observed in patients with SARS-CoV-2 vaccination-induced AVP-D. Although this finding could not rule out any malignancies, we additionally measured anti-rabphilin-3A antibodies, a known marker for lymphocytic infundibulo-neurohypophysitis (LINH), and found that the results were positive, strongly suggesting LINH as the cause of this disease. Thus, we avoided pituitary biopsy. At the follow-up MRI conducted 12 months after the initial consultation, enlargement of the pituitary stalk was still observed. Conclusion: We experienced a case with LINH probably induced by SARS-CoV-2 vaccination. In SARS-CoV-2 vaccination-related LINH, unlike typical LINH, there is a possibility of persistent pituitary stalk enlargement on MRI images for an extended period, posing challenges in differential diagnosis from other conditions. Pituitary stalk enlargement and positive anti-rabphilin-3A antibodies may help in the diagnosis of AVP-D induced by SARS-CoV-2 vaccination. [ABSTRACT FROM AUTHOR]

This case report presents a 10-year-old patient diagnosed with pheochromocytoma/paraganglioma syndrome type 1 (PPGL1), underlined by a novel heterozygous pathogenic variant (c.154_161del, p.ser52Profster14) in the SDHD gene. Initially, the patient manifested symptoms unusual for pheochromocytoma, including polyuria and polydipsia; however, further diagnostic investigations revealed a pheochromocytoma (PCC) tumor in the adrenal gland. Subsequently, whole exome sequencing (WES) test identified a pathogenic frameshift variant in the SDHD gene, strongly suggestive of PPGL1. This study highlights the importance of considering atypical symptoms in diagnosing rare pediatric pheochromocytoma/paraganglioma tumors and underscores the value of genetic testing in identifying underlying genetic causes, thereby facilitating personalized management of the condition. [ABSTRACT FROM AUTHOR]

Nephrogenic diabetes insipidus (NDI) is a rare genetic disorder primarily associated with mutations in the arginine vasopressin receptor 2 (AVPR2) gene or the aquaporin 2 (AQP2) gene, resulting in impaired water reabsorption in the renal tubules. This report describes a case of a young male patient with NDI from China with a history of polydipsia and polyuria for over 15 years. Laboratory examinations of the proband indicated low urine-specific gravity and osmolality. Urologic ultrasound revealed severe bilateral hydronephrosis in both kidneys, bilateral dilatation of the ureters, roughness of the bladder wall, and the formation of muscle trabeculae. The diagnosis of diabetes insipidus was confirmed by water deprivation tests. The administration of posterior pituitary hormone did not alter urine-specific gravity, and osmolality remained at a low level (<300 mOsm/kg). Based on these findings, and the genetic tests of the proband and his parents were performed. A missense mutation (c.616 G>C) in exon 3 of the AVPR2 gene of the proband was found, caused by the substitution of amino acid valine to leucine at position 206 [p.Val206Leu], which was a hemizygous mutation and consistent with X-chromosome recessive inheritance. The administration of oral hydrochlorothiazide improves the symptoms of polydipsia and polyuria in the proband. This novel AVPR2 gene mutation may be the main cause of NDI in this family, which induces a functional defect in AVPR2, and leads to reduced tubular reabsorption of water. [ABSTRACT FROM AUTHOR]

Copyright of Hungarian Medical Journal / Orvosi Hetilap is the property of Akademiai Kiado and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: The COVID-19 pandemic caused an unprecedented number of patients requiring veno-venous extracorporeal membrane oxygenation (VV ECMO) therapy. Clinical polyuria was observed at our ECMO center during the pandemic. This study aims to investigate the incidence, potential causes, and implications of polyuria in COVID-19 patients undergoing VV ECMO therapy. Methods: Here, 68 SARS-CoV-2 positive patients receiving VV ECMO were stratified into the following two groups: polyuria (PU), characterized by an average urine output of ≥3000 mL/day within seven days following initiation, and non-polyuria (NPU), defined by <3000 mL/day. Polyuria in ECMO patients occurred in 51.5% (n = 35) within seven days after ECMO initiation. No significant difference in mortality was observed between PU and NPU groups (60.0% vs. 60.6%). Differences were found in the fluid intake (p < 0.01) and balance within 24 h (p = 0.01), creatinine (p < 0.01), plasma osmolality (p = < 0.01), lactate (p < 0.01), urea (p < 0.01), and sodium levels (p < 0.01) between the groups. Plasma osmolality increased (p < 0.01) after ECMO initiation during the observation period. Results: Diuresis and plasma osmolality increased during VV ECMO treatment, while mortality was not affected by polyuria. Conclusions: Polyuria does not appear to impact mortality. Further investigations are warranted to elucidate its underlying mechanisms and clinical implications in the context of VV ECMO therapy and COVID-19 management. [ABSTRACT FROM AUTHOR]

Background: Diabetes mellitus (DM) is a metabolic disorder characterized by an elevated blood sugar level due to problems with insulin synthesis, effect, or both. Various clinical signs follow DM: Hyperglycemia, polydipsia, polyuria, and polyphagia. Worldwide prevalence is high and predicted to be 592 million by 2035. Animal models are used in the study of diabetes due to ethical issues. Although the streptozotocin (STZ) model is frequently used, it is unreliable due to unexplained acute toxicity and effective dose variability. Objectives: This research was conducted to determine the effective dose regimen of STZ for inducing diabetes in Wister rats. Methods: A total of 28 male Wistar rats (160-190 g) were randomly divided into 4 groups (each 7 rats) and monitored for 21 days after diabetes induction with STZ: Control (CTR), diabetics (DIA)1 (60 mg/kg STZ), DIA2 (60 mg/kg STZ twice at 0 and 24 hours), and DIA3 (60 mg/kg STZ thrice at 0, 24 and 48 hours). Plasma glucose was determined with a glucometer. Body weights, feed intake, and fecal output were weighed with a digital balance, while water intake and urine output were measured with a measuring cylinder. Analyses of data obtained were performed using a one-way ANOVA and Tukey's test at a significance level of P=0.05. Results: There was a significant (P<0.05) decrease in body weight of the diabetic groups (-15.53%±1.2%, -26.8%±1.2%, -28.5%±1.9%) compared to the CTR (10.5%±2.5%). There was a significant (P<0.05) increase in fasting blood glucose concentrations (135.2±9.0, 273.2±6.5, 257.0±5.3 mg/dL) in the people with diabetes compared to the CTR (79.3±1.1 mg/dL). Water intake (56.9±0.9, 72.1±1.7, 77.8±5.5 mL), feed intake (19.4±0.6, 23.3±1.9, 42.1±2.1 g), voided urine (6.34±0.1, 8.39±0.88, 9.8±0.50 mL) and voided feces (10.4±0.26, 11.7±0.43, 8.5±0.17 g) in the diabetic groups increased significantly (P<0.05) compared to the CTR (26.5±0.8 mL, 13.4±0.3 g, 1.84±0.08 mL, and 6.5±0.33 g, respectively). Conclusion: The dose regimen of 60 mg/kg STZ administered intraperitoneally twice (24 hours apart) sustained diabetes for 21 days. We recommend adopting this dose regimen in STZ-induced diabetic studies in male Wistar rats. [ABSTRACT FROM AUTHOR]

Background: Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal 'cystinosin' protein. This dysfunction causes intracellular cystine accumulation, resulting in nephropathic and ocular abnormalities. Cystinosis is relatively rare in Asian countries, partly due to underreporting and lack of awareness, and cases often lack sufficient genetic evidence to support their diagnosis. This study presents a descriptive case series involving four Indian patients with cystinosis, elucidating clinical and genetic aspects. Methods: All four patients underwent comprehensive ophthalmic evaluations. The corneal cystine crystal (CCC) score was determined using anterior segment optical coherence tomography (AS-OCT) and in vivo confocal microscopy (IVCM). Genetic testing was performed using whole exome sequencing (WES). Results: Corneal crystal deposition, a hallmark of cystinosis, was evident in all cases. Systemic analysis revealed manifestations such as polyuria, bony abnormalities, growth retardation, hypothyroidism, and developmental delay. Genetic testing in two patients identified a homozygous pathogenic variant c.18_21delGACT (p.Thr7PhefsX7) in the CTNS gene, previously reported to cause cystinosis in different ethnic populations. Conclusions: Our case series sheds light on underrepresented cases of cystinosis in the Indian population. The rarity of this condition poses diagnostic challenges, leading to delayed or inaccurate diagnoses. AS-OCT can serve as a viable alternative to IVCM for assessing corneal crystal density status in cystinosis. Timely recognition and management are crucial in preventing complications, and the inclusion of genetic testing can expedite cystinosis diagnosis. [ABSTRACT FROM AUTHOR]

Haptoglobin (Hp) is a polymorphic protein that was initially described as a hemoglobin (Hb)-binding protein. The major functions of Hp are to scavenge Hb, prevent iron loss, and prevent heme-based oxidation. Hp regulates angiogenesis, nitric oxide homeostasis, immune responses, and prostaglandin synthesis. Genetic polymorphisms in the Hp gene give rise to different phenotypes, including Hp 1-1, Hp 2-1, and Hp 2-2. Extensive research has been conducted to investigate the association between Hp polymorphisms and several medical conditions including cardiovascular disease, inflammatory bowel disease, cancer, transplantation, and hemoglobinopathies. Generally, the Hp 2-2 phenotype is associated with increased disease risk and poor outcomes. Over the years, the Hp 2 allele has spread under genetic pressures. Individuals with the Hp 2-2 phenotype generally exhibit lower levels of CD163 expression in macrophages. The decreased expression of CD163 may be associated with the poor antioxidant capacity in the serum of subjects carrying the Hp 2-2 phenotype. However, the Hp 1-1 phenotype may confer protection in some cases. The Hp1 allele has strong antioxidant, anti-inflammatory, and immunomodulatory properties. It is important to note that the benefits of the Hp1 allele may vary depending on genetic and environmental factors as well as the specific disease or condition under consideration. Therefore, the Hp1 allele may not necessarily confer advantages in all situations, and its effects may be context-dependent. This review highlights the current understanding of the role of Hp polymorphisms in cardiovascular disease, inflammatory bowel disease, cancer, transplantation, hemoglobinopathies, and polyuria. [ABSTRACT FROM AUTHOR]

Severe hypercalcemia associated with vitamin D intoxication or malignancy in children is a rare and life-threatening condition. There is little published experience with Zoledronic acid (ZA) in the treatment of pediatric severe hypercalcemia. Here, we present two pediatric cases of severe hypercalcemia, one due to vitamin D intoxication and the second to malignancy, in which ZA was used as the first-line bisphosphonate in the treatment. While both cases responded well to a single dose of ZA, the second case experienced hypocalcemia requiring calcium treatment after ZA infusion. Our report shows that ZA may be an effective option in the treatment of severe pediatric hypercalcemia, although patients should be followed closely after infusion due to the risk of hypocalcemia. We provide additional published evidence for the effectiveness of ZA in correcting severe pediatric hypercalcemia and hope this will encourage future studies with larger numbers of patients. [ABSTRACT FROM AUTHOR]

Maturity onset diabetes of the young (MODY) is characterized by noninsulin-dependent diabetes diagnosed before the age of 25 years with an autosomal dominant inheritance. Rare mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene produce a syndrome that resembles MODY. About half of patients diagnosed with MODY type 5 due to HNF1B variants, carry a whole gene deletion, known as 17q12 deletion syndrome. 17q12 deletion syndrome is a rare chromosomal anomaly and is typified by deletion of more than 15 genes, including HNF1B resulting in kidney abnormalities and renal cysts, a diabetes syndrome and neurodevelopmental or neuropsychiatric disorders. A 12-year-old girl was referred after high blood sugar was detected in the hospital where she presented with polyuria and polydipsia, which had persisted for one month. Her serum magnesium (Mg) level was low at 1.5 mg/dL (normal value 1.6-2.6) and glycated hemoglobin was 14% (normal value 3.6-5.8) concurrent with a c-peptide of 1.54 ng/mL (normal value 0.8-4). MODY5 was suspected but the NGS gene panel (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEURODD1, PAX4, PDX1, RFX6, ZFP57, GLIS3, FOXP3, NEUROG3, G6PC2) did not identify any abnormality. During follow-up, her serum Mg remained low (1.2 mg/ dL) together with elevated urinary Mg excretion at 172.5 mg/day. An HNF1B variant was again suspected in a patient with chronic hypomagnesemia with normal basal C peptide level. Abdominal computed tomography and magnetic resonance imaging revealed a 43 mm diameter, cystic lesion in the head of the pancreas, with agenesis of the pancreatic neck, trunk and tail. Genetic testing using a microarray analysis was subsequently performed and a heterozygous deletion at 17q12, including HNF1B, was detected. In case of clinical suspicion of HNF1B variants, further genetic examination using other techniques such as MLPA and CGH array may be required to detect the variant. This is because deletions and duplications may not be detected using next generation screening panel techniques. [ABSTRACT FROM AUTHOR]

Type 2 diabetes is a highly prevalent metabolic condition with significant long-term health risks. First-line therapy for managing diabetes includes pharmaceuticals alongside nutritional, physical activity, and weight management interventions. However, some patients do not adhere to these recommendations or decline them altogether. This case report aims to document a case in which non-pharmacological treatment had a beneficial impact on severe uncontrolled type 2 diabetes. The subject is an unmedicated 59-year-old male patient with a reported 15-year history of uncontrolled type 2 diabetes. He presented with physical symptoms (fatigue, cravings, polyuria), signs of end-organ damage (neuropathy, retinopathy), and baseline labs indicative of severe glycemic dysregulation including an elevated fasting glucose and an elevated HbA1c. Despite the practitioner recommending pharmaceuticals as per clinical practice guidelines, the patient opted for non-pharmacological naturopathic interventions. Individualized nutritional modifications, increased physical activity, and two herbal-nutrient supplements were recommended. Over 4 months, the patient's diabetic symptoms improved alongside a corresponding significant improvement in lab markers (2.0% reduction in HbA1c from 10.1% to 8.1%; 5.7 mmol/L reduction in fasting glucose from 15.9 mmol/L to 10.2 mmol/L). This case demonstrates a significant improvement in symptoms and laboratory markers of glycemic regulation following 4 months of a multimodal, non-pharmacological treatment approach for a patient with uncontrolled diabetes who declined pharmacotherapy. This case adds to a body of literature suggesting that further research investigating non-pharmacological treatment options for managing diabetes is warranted. [ABSTRACT FROM AUTHOR]

An 11-year-old male child who presented with increased frequency of urination, thirst and feeling of incomplete void was initially diagnosed with diabetes mellitus (DM) based on elevated blood sugar. Polyuria and polydipsia were confirmed even after normalisation of blood sugar. A standardised water deprivation test showed presence of central diabetes insipidus (DI) and patient was started on desmopressin. Presence of DM and DI led to suspicion of DIDMOAD/Wolfram syndrome and ophthalmic examination confirmed bilateral optic atrophy. Despite treatment for DM and DI the urinary complaints persisted, and ultrasound showed persistent bilateral hydronephroureterosis. Bladder workup including voiding cystourethrography (VCUG) and urodynamic study reported thickened trabeculated bladder wall along with overactivity, poor compliance and high bladder pressure. Bladder dysfunction has been documented to be associated with Wolfram syndrome and often may lead to chronic kidney disease which can be prevented by early diagnosis and appropriate management. The case highlights the need for comprehensive evaluation of children with urinary symptoms. [ABSTRACT FROM AUTHOR]

Background: Although vaccination against coronavirus disease (COVID-19) has several side effects, hypopituitarism due to hypophysitis has rarely been reported. Case presentation: An 83-year-old healthy woman, who had received her fourth COVID-19 vaccine dose 2 days before admission, presented to the emergency department with difficulty moving. On examination, impaired consciousness (Glasgow Coma Scale: 14) and fever were observed. Computed tomography and magnetic resonance imaging of the head revealed swelling from the sella turcica to the suprasellar region. Her morning serum cortisol level was low (4.4 μg/dL) and adrenocorticotropic hormone level was normal (21.6 pg/mL). Central hypothyroidism was also suspected (thyroid stimulating hormone, 0.46 μIU/mL; free triiodothyronine, 1.86 pg/mL; free thyroxine, 0.48 ng/dL). Secondary adrenocortical insufficiency, growth hormone deficiency, delayed gonadotropin response, and elevated prolactin levels were also observed. After administration of prednisolone and levothyroxine, her consciousness recovered. On the 7th day of admission, the patient developed polyuria, and arginine vasopressin deficiency was diagnosed using a hypertonic saline test. On the 15th day, the posterior pituitary gland showed a loss of high signal intensity and the polyuria resolved spontaneously. On the 134th day, the corticotropin-releasing hormone loading test showed a normal response; however, the thyrotropin-releasing hormone stimulation test showed a low response. The patient's disease course was stable with continued thyroid and adrenal corticosteroid supplementation. Conclusions: Herein, we report a rare case of anterior hypopituitarism and arginine vasopressin deficiency secondary to hypophysitis following COVID-19 vaccination. [ABSTRACT FROM AUTHOR]

Objective: Rare disease. Background: Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin receptor 2, or it can be secondary to kidney disease or electrolyte imbalance. The clinical signs of NDI include polyuria, compensatory polydipsia, hypernatremic dehydration, and growth retardation without prompt treatment. In this report, we present the case of a patient with congenital NDI who was later diagnosed with acute lymphoblastic leukemia (ALL). With dexamethasone treatment, he had uncontrolled polyuria and polydipsia. Our aim was to concentrate on the impact of steroids on the kidneys. Case Report: Our patient presented at the age of 9 months with signs of severe dehydration that were associated with polyuria. His laboratory examinations revealed hypernatremia and decreased urine osmolality. He was diagnosed with NDI and his exome sequence revealed a homozygous mutation at the nucleotide position AQP2 NM_000486.6: c.374C>T (p.Thr125Met). He was treated with hydrochlorothiazide and amiloride. Then, at age 19 months, he presented with gastroenteritis and a complete blood count (CBC) showed high white blood cell count and blast cells. He was diagnosed with (ALL) and began receiving chemotherapy, during which again developed polydipsia and polyuria, which could not be controlled with an increased dosage of hydrochlorothiazide. Conclusions: We report a rare case of NDI caused by a missense mutation in the aquaporin 2 gene. One year later, the child developed ALL, and treatment with dexamethasone led to an uncompensated state of polydipsia and polyuria. [ABSTRACT FROM AUTHOR]

Objectives: Patients following renal transplantation (RTX) may experience nocturia exacerbation due to polyuria and reduced bladder capacity, thereby impacting the specific quality of life (QOL) associated with nocturia. The present study aims to investigate factors associated with the deterioration of nocturia‐specific QOL in RTX patients. Methods: The study cohort comprised 59 consecutive patients who had undergone successful RTX. Nocturia‐related QOL questionnaires (N‐QOL) were employed to evaluate the specific QOL related to nocturia. The Bother/Concern and Sleep/Energy domains of the N‐QOL were also assessed. The primary outcome measure was to explore factors related to the aggravation of nocturia‐specific QOL in patients post‐RTX. Results: The mean nocturia frequency post‐RTX was 1.3 ± 1.0. Univariate and multivariate analyses revealed a significant reduction in the Bother/Concern domain score associated with increased nocturia (p =.042). Aging significantly decreased the total N‐QOL score and the Sleep/Energy domain score (p =.001 and.0002, respectively). Prolonged duration after RTX significantly reduced the scores of both the Sleep/Energy domain and the Bother/Concern domain (p =.018 and.037, respectively). However, the duration of dialysis prior to RTX was not significantly associated with the total score or subdomains of N‐QOL. Conclusions: Nocturia‐specific QOL affected not only the nocturia itself, but also aging and the prolonged duration after RTX. Thus, comprehensive approaches to the RTX patients were needed to improve the Nocturia‐specific QOL in RTX patients. [ABSTRACT FROM AUTHOR]

Eighty-year-old female physician sought consultation for continued use of Nisha-Amalaki (N-A), which had relieved her Nocturnal Leg Cramps (NLCs). She had well-controlled hypertension (HT) for 28 years and diabetes mellitus for 26 years, and experienced occasional NLCs since the age of 35 years without a need of any pharmacotherapy. For increased NLCs frequency and severity post diagnosis of diabetes, she recently started N-A (500 mg) once daily. She was already on metformin (500 mg) twice a day, glimepiride (0.5 mg) once a day, telmisartan (40mg) + hydrochlorothiazide (12.5 mg) once a day, and cilnidipine (5 mg) once a day, along with nutritional supplements (multivitamin, vitamin-B12, and calcium 500 mg once daily). HbA1c was maintained between 6-6.9% and fasting blood sugar (FBS) between 114-126 mg%. There was no Retinopathy (RP) or nephropathy (NP). Her NLCs almost disappeared in four weeks and she has now continued N-A for the last nine months. At this point, glimepiride 0.5 mg after dinner to reduce FBS and HbA1c, and aspirin 75 mg to improve microcirculation, were added. Most practicing physicians, as in this case, are satisfied if the HbA1c is maintained below 7% and hope to avoid the risk of hypoglycemia, which can also be harmful. Recent literature shows that RP, NP, and peripheral neuropathy (PN) start after HbA1c crosses 6% and may rise sharply after 8%. The purpose of this case report is to encourage a stricter control of HbA1c and highlight that NLCs could indicate early PN. [ABSTRACT FROM AUTHOR]

Copyright of Die Urologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The number of racing pigeons recently increased in Iraq accompanied by significant increases in the number of events similar to the neurotrophic velogenic group of ND viruses in different regions. Thus, this research was designed to study the influence of natural infection with PPMV-1 on clincopathological profiles in four PPMV-1-associated mortality events in racing pigeons in the southern part of Iraq. The result revealed that HI antibody titers above the positivity threshold of four events were seen in (9 out of 24) of tested pigeons in all events, and the predominant signs included polyuria followed by neural symptoms which appear in most of the affected pigeons in the flock. All events showed a high mortality rate (60% - 70%) and absence of gross abnormalities in necropsied pigeons. kidney showed widespread interstitial hemorrhage and intensive epithelial sloughing of renal tubular epithelium, marked white pulp hyperplasia and marked peri-arteriolar fibrosis with onion skin appearance in the spleen, and marked destruction of the superficial intestinal mucosa and intensive inflammation in the site of tissue destruction. This study demonstrates the role of PPMV-1 on clincopathological profiles in racing pigeons associated with recent outbreaks in Iraq, polyuria followed by neural symptoms represent the predominant symptoms in the affected pigeons. [ABSTRACT FROM AUTHOR]

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Feeding disorders of infancy are common in paediatric practice. Among rare causes of this disturbance is diabetes insipidus (DI), which is a clinical syndrome characterized by polyuria, polydypsia and dehydration with hypernatraemia. Central diabetes insipidus (CDI, vasopressin deficiency) is more common in children than nephrogenic diabetes insipidus (NDI, an inability to respond adequately to vasopressin). Regardless of the type of DI, the main goal of treatment is to decrease thirst and urine output and achieve proper ion and fluid balance. We present three cases of infants with feeding difficulties. The first two cases concerned patients with semilobar holoprosencephaly (HPE). Their stories show the importance of knowing the most common abnormalities associated with HPE, such as CDI. The third child had similar problems with feeding which resembled a defect of the central nervous system, but was finally diagnosed as NDI. The diagnostic and therapeutic approach is demonstrated in the paper with special regards to safe management of hypernatraemic dehydration. [ABSTRACT FROM AUTHOR]

Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. We present the case of a 14-year-old Korean female diagnosed with chromosome 17q12 deletion syndrome, confirmed by chromosomal microarray analysis. The patient exhibited MODY5 with pancreatic agenesis, MRKH syndrome, dysmorphic facial features, developmental delay, kidney rotation anomaly, portal vein thrombosis with liver hypoplasia, short stature, and scoliosis. Management involved the initiation of multiple daily insulin injections for diabetes control, gynecological evaluation for MRKH syndrome, and multidisciplinary care for associated complications. This case highlights the complexity and varied organ involvement in chromosome 17q12 deletion syndrome. A comprehensive and multidisciplinary approach is crucial for the management of affected individuals, including regular monitoring, tailored interventions across various medical specialties, and providing psychosocial support. [ABSTRACT FROM AUTHOR]

Objectives: Nocturnal polyuria (NP) is one of the causes of nocturia that impairs quality of life. It is necessary to consider that NP is latent when the initial treatment for nocturia is unsatisfactory. Therefore, it is important to establish a treatment for NP based on the pathophysiology. We have previously reported the relationship between NP and fluctuation in blood pressure. The present study aimed to investigate the association between NP and 24‐h blood pressure fluctuations in a multicenter prospective study. Methods: This study included male patients with lower urinary tract symptoms. We categorized the patients into the nonnocturnal polyuria (non‐NP) group (≤0.33) and the NP group (>0.33) based on the nocturnal polyuria index from the frequency volume chart. We measured the 24‐h diurnal blood pressure and compared the two groups. Results: Among 90 patients, 46 in the non‐NP group and 44 in the NP group were included. There was no significant difference in the systolic and diastolic blood pressure during waking time between the two groups; however, the degree of systolic blood pressure reduction during sleep time in the NP group was significantly less than that in the non‐NP group (p = 0.039). In the multivariate analysis, systolic BP during sleep was significantly associated with NP (OR 0.970, p = 0.028). Conclusion: NP is associated with inadequate nocturnal blood pressure reduction in males, suggesting that reduction in nocturnal blood pressure may lead to improvement in nocturia. [ABSTRACT FROM AUTHOR]

Background: Obesity is still become a serious problem today. Obesity is caused by excessive adipose tissue. One of many factors that contribute to a person's obesity is food intake. Excess carbohydrate and fat intake will be stored in the form of triglycerides in adipose tissue. In the meantime, Low-Carb Diet (LCD) and Low-Fat Diet (LFD) are one of the most popular treatments on obesity. However there are many pros and cons related to each diet based on several studies. Objectives: The indicated study aims to determine the effectiveness of LCD and LFD on body composition in people with obesity. Methods: The study was conducted through journal and literature review, based on five journal publications, filtered by related keywords. In accordance to inclusion and exclusion criteria within the last ten years in Pubmed/Medline database, Science Direct, and Wiley Online Library with the keywords "Low-Carb Diet", "Low-Fat Diet", "Body Mass Index", "Lipid Levels", "Adipose Tissue", "Obese", and "Body Water". Discussion: Total body mass and fat mass decreased significantly after being given LCD intervention compared to LFD. The group that was given two dietary interventions also losing weight, but there was no changes in body water. In addition, negative effects were found from the LCD and LFD interventions such as constipation, fatigue, polyuria, nausea, vomiting, changes in appetite, and headaches. Kidney failure, ketosis, and premature coronary artery also occurred in the group that was given with LCD intervention. Conclusions: LCD and LFD interventions can affect body composition of people with obesity. [ABSTRACT FROM AUTHOR]

Abstract Objective This systematic meta‐analysis aimed to assess the effectiveness of triptorelin therapy in reducing lower urinary tract symptoms (LUTS) in men with prostate cancer (PCa). Methods The Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA) guidelines were followed. PubMed, Web of Science and EMBASE databases were searched for studies conducted between 2013 and 2023. Eligible studies included PCa patients undergoing androgen deprivation therapy (ADT) with triptorelin, with reported baseline and follow‐up International Prostate Symptom Scores (IPSS) and quality of life (QoL) data. The Newcastle–Ottawa Scale (NOS) was used to assess the risk of bias, and a random‐effects model was applied for the meta‐analysis. Results A total of 29 articles were identified, and three studies met the inclusion criteria. Triptorelin therapy showed a clinically significant reduction in IPSS over 48 weeks in PCa patients with moderate to severe LUTS. The meta‐analysis revealed a pooled effect size of 1.05 (95% CI: 0.65; 1.45), indicating a statistically significant improvement in LUTS. QoL also improved in patients receiving triptorelin therapy, although heterogeneity among the studies and a moderate to high risk of bias were noted. Conclusion Triptorelin therapy demonstrated a positive impact on LUTS in PCa patients. The meta‐analysis showed significant reductions in IPSS scores and improved QoL after 48 weeks of triptorelin treatment. However, the results should be interpreted cautiously due to study heterogeneity and potential biases. Further well‐designed studies are needed to confirm these findings and determine the optimal use of triptorelin for managing LUTS in men with PCa. Implications for Practice Triptorelin therapy may offer an effective treatment option for men with PCa experiencing moderate to severe LUTS. Its positive impact on QoL can lead to improved patient well‐being and treatment adherence. Clinicians should consider triptorelin as a potential treatment choice, especially in patients who may be reluctant to undergo surgical interventions for their LUTS. However, careful patient selection and close monitoring are essential due to the observed study heterogeneity and risk of bias. Future research should focus on evaluating triptorelin's cost‐effectiveness and comparing its efficacy with other LH‐RH agonists in managing LUTS in PCa patients. Video Abstract: URL (Reviewers/Editors to select from) Link 1: https://brighton.cloud.panopto.eu/Panopto/Pages/Viewer.aspx?id=071419c8-1ad5-4502-a222-b04300c2ca5e Link 2: https://brighton.cloud.panopto.eu/Panopto/Pages/Viewer.aspx?id=b6305a8a-b977-4fcd-a69e-b04300bed728

Polydipsia is characterized by the voluntary and excessive intake of liquids. Primary polydipsia usually occurs in adolescents or adults with a psychiatric disorder. Other pathologies, such as diabetes mellitus and diabetes insipid, also manifest with these symptoms. We present a case of a 15-month-old male infant who suddenly started with polyuria and polydipsia. Ingestion of about 3 L/day of water and urinary output of 12.9 ml/Kg/h. Analytically, hyponatremia, low plasma, and urinary osmolarity. A fluid restriction test was performed, that resulted in an increased urinary concentration. The diagnosis of primary polydipsia was assumed. A progressive reduction in daily water intake was carried out, with good response. Primary polydipsia is a differential diagnosis of polyuria and polydipsia, but infrequent in younger children. The authors intend to emphasize the need for a high index of suspicion and the challenge of etiological investigation because of the atypical age for the occurrence of this diagnosis. [ABSTRACT FROM AUTHOR]

Background: The management of posterior urethral valve (PUV) in neonates requires close monitoring in the intensive care unit because of the risk of post-obstructive diuresis (POD). Our aim was to describe the incidence and factors associated with POD in newborns treated for PUV. Methods: Retrospective analysis of the medical records of all neonates who underwent surgical intervention for PUV in our neonatal intensive care unit between January 2014 and April 2021. Results: Of the 40 patients included, 15 (37.5%) had POD defined by urine output > 6 ml.kg−1.h−1 during the first 24 h following urinary tract obstruction relief. At prenatal ultrasound examinations, oligohydramnios was more common in the group with POD than in the group without (53.3% vs. 8%, p = 0.002). Preterm birth was more frequent in neonates with POD (66.7% vs. 8%; p < 0.001). Median serum creatinine (212 [137–246] vs. 95 [77–125] µmol.l−1; p < 0.001) and urea (8.5 [5.2–12.2] vs. 4.1 [3.5–4.7] mmol.l−1; p < 0.001) concentrations on the day of obstruction relief were significantly higher in the group with POD than in the group without. After adjustment for prematurity, logistic regression models confirmed correlation between the occurrence of POD and the severity of the consequences of urethral obstruction (i.e., oligohydramnios and serum creatinine levels; ß = 2.90 [0.88; 5.36], p = 0.013 and ß = 0.014 [0.003; 0.031], p = 0.034, respectively). Conclusions: In neonates, POD is common after the relief of PUV-related obstruction. Our findings may help to identify patients at highest risk. [ABSTRACT FROM AUTHOR]

Hydroxyhydroquinone (HHQ) is an oxidative component produced by roasting coffee beans and has been reported to generate relatively large amounts of reactive oxygen species (ROS). In this study, we used senescence-accelerated mouse prone 8 (SAMP8) mice to determine whether HHQ consumption increases oxidative-stress-induced injury, because in SAMP8 mice, the activity of 8-oxoguanine DNA glycosylase 1, which repairs oxidative modifications in DNA, is decreased. The results showed that two out of twelve (16.7%) HHQ-treated mice presented polyuria and glucosuria around 2 months after the start of treatment, indicating that HHQ may act as a mutagen against SAMP8 mice, which is sensitive to oxidative damage. No abnormalities were observed in the chlorogenic acid (coffee polyphenol, CPP)-treated group. The concentration of hydrogen peroxide in the serum of SAMP8 mice was significantly higher than that in SAMR1 (senescence-resistant) control mice, and the concentration was further increased in the HHQ-treated group. CPP, when coexisting with HHQ at the rate contained in roasted coffee, decreased the amount of hydrogen peroxide in the serum of SAMP8 mice. Although CPP can act both oxidatively and antioxidatively as a polyphenol, CPP acts more antioxidatively when coexisting with HHQ. Thus, the oxidative effect of HHQ was shown to be counteracted by CPP. [ABSTRACT FROM AUTHOR]

The urinary behaviour disorders in domestic cats often have organic or metabolic causes, as a result of some associated pathophysiological processes. Thus, two main disorders of physiopathological interest are distinguished: dysuria and polyuria, respectively. In their diagnosis, a series of possible causes are taken into account, such as: disorders determined by diseases of the urinary system - cause of dysuria, pollakiuria or polyuria and locomotor diseases, which make it difficult for the patient to reach the litterbox. Once organic causes are excluded, it is recommended to develop an ethological analysis to establish the specific behavioural diagnosis. Disorders of the urinary behaviour in domestic felines, with ethopathological causality, are mainly represented by urinary emissions in forbidden places. These behavioural deviations have a marked impact on the owner's comfort and often indicate the presence of stressors acting on the individual or, in the case of unneutered cats, sexual motivation. In this species, urination outside the litterbox is the standard method of marking the territory, a normal behaviour in nature, but abnormal, with clear ethopathological connotation, when it occurs in its own living environment, especially when it appears suddenly and apparently without a precise causality. [ABSTRACT FROM AUTHOR]

Although AVP and its surrogate, copeptin, are mainly regulated by osmotic and volume stimuli, their secretion is also elicited by stress and growth hormone (GH) stimulating agents. The aim of this report is to describe unusual patterns of copeptin response in a subset of children undergoing GH stimulation tests (GH-ST). We conducted a secondary analysis of a cohort of 93 healthy short children with no polydipsia, polyuria or fluid/electrolyte abnormalities, undergoing GH-ST with intravenous arginine, insulin, oral clonidine, or L-Dopa/carbidopa in various combinations. Serum copeptin concentrations were measured 1–3 min after phlebotomy (0 min) and at 60, 90, 120 min during GH-ST. In 85 subjects (normal response group, NRG) serum copeptin concentrations increased from a 0 min median of 9 pmol/L (IQR 6, 11.5) (all values ≤21) to a median peak between 60 and 120 min of 22 (IQR15, 38) pmol/L, which varied depending on the stimulating agent. Conversely, in the eight outliers, copeptin concentrations decreased gradually from a median of 154 (IQR 61, 439) pmol/L (all ≥40 pmol/L) to values as low as 14 % of the basal value, by 120 min. Test-associated anxiety was described in 17 subjects in the NRG (20 %) and five of the outliers (63 %). A distinctive pattern of very elevated serum copeptin concentrations occurred in 9 % of children undergoing GH-ST, similar to reports in previous pediatric studies. Etiology may include pain or stress of phlebotomy. This phenomenon should be recognized for proper interpretation of copeptin values in children. [ABSTRACT FROM AUTHOR]

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