Posterior reversible encephalopathy syndrome and parkinsonism as the first manifestation of primary hyperparathyroidism - a report of two cases.

BACKGROUND/OBJECTIVE: Primary hyperparathyroidism (PHPT) may be asymptomatic or present with renal calculi, secondary osteoporosis, fractures and neuropsychiatric manifestations. Posterior reversible encephalopathy syndrome (PRES) and parkinsonism are atypical manifestations that may be rarely associated with PHPT. We report two patients who presented with the conditions mentioned above. CASE REPORT: The first patient involved a 38-year-old woman who presented with diminution of vision, seizures, altered behavior and hypertension over eight months. An MRI of the brain done had shown vasogenic edema involving the parieto-occipital regions, suggestive of PRES. A metabolic screen revealed PTH-dependent hypercalcemia that was localized to the left inferior parathyroid gland. Following focused parathyroidectomy, there was improvement in sensorium, vision and normalization of blood pressure. The second patient was of a 74-year-old man who presented with progressive extrapyramidal symptoms of gait abnormalities and rigidity since the past eight months. He was initiated on Selegeline and Levodopa for the same purpose, and subsequently reported minimal improvement in symptoms. Investigations revealed PHPT associated with a right inferior parathyroid adenoma. Within two weeks following surgery, there was an improvement in rigidity and gait and he was able to ambulate without support. DISCUSSION: PRES has been reported to occur in the context of preeclampsia, hypertension, infection, sepsis and autoimmune conditions. PRES associated with hypercalcemia is rarely reported. While extra-pyramidally related manifestations are described in hypoparathyroidism, PHPT related parkinsonism is not commonly encountered. Identifying the underlying aetiology and initiation of corrective measures may lead to amelioration of patient symptomatology. CONCLUSION: The occurrence of PRES and parkinsonism is rare in primary hyperparathyroidism; the two patients described above highlight the importance of screening for hypercalcemia in the setting of neurological manifestations.

Pre-operative chemoradiotherapy followed by mastectomy and breast reconstruction-A systematic review of clinical, oncological, reconstructive and aesthetic outcomes.

BACKGROUND: Pre-operative radiotherapy (PRT) and pre-operative chemoradiotherapy (PCRT) prior to mastectomy and immediate breast reconstruction for locally advanced breast cancer have the potential to reduce radiation late-effects and expedite oncologic treatment. Recent feasibility work indicates that PCRT is safe and technically possible. Here, we present a systematic review of currently available data on clinical, oncological, reconstructive and aesthetic outcomes. METHODS: A prospectively registered search of Medline (Ovid), EMBASE (Ovid), EMCARE (Ovid) and CINAHL (EBSCO) databases was performed in August 2023. Clinical, oncological, reconstructive and aesthetic outcomes were appraised with risk of bias (ROBINS-I) and methodological quality determined (STROBE checklist) for each study. RESULTS: Twenty-two published articles (19 journal articles and 3 abstracts) were identified reporting the outcomes of 1258 patients with median follow-up between 19.0-212.4 months. Patients received neoadjuvant chemotherapy in 20 studies. Rates of locoregional recurrence and overall survival ranged between 0-21.7% and 82.0%-98.3% respectively. Rates of flap loss or necrosis ranged from 0-7.6%. Rates of revisional procedures ranged between 1.9-35.3%. Patient-reported outcomes were reported in 7 studies and were mostly 'good' or 'excellent'. CONCLUSION: PRT and PCRT preceding mastectomy and breast reconstruction produce acceptable oncological outcomes with rates of surgical complication and reconstructive outcomes within normal limits, however, the majority of available studies are of low methodological quality and at high risk of bias. A pragmatic randomised trial comparing PRT versus PMRT in the setting of breast reconstruction is now urgently required to guide surgical practice.

A Lower Prevalence of Central Nervous System and Higher Prevalence of Cardiac Symptoms Characterises Indian Patients with Thyrotoxic Storm: A Retrospective Analysis.

Introduction: Thyroid storm is an uncommon but life-threatening presentation of thyrotoxicosis with a mortality rate of 10%. Our objective was to study the demographics, clinical and biochemical characteristics, and outcomes of inpatients diagnosed with thyroid storm in the Indian context. Methods: This retrospective study was conducted by analysing the institutional electronic medical records (EMR) of all patients admitted with thyroid storm from 2004 to 2020 with a Burch-Wartofsky score (BWS) of ≥45. Results: Thirty-five patients with a BWS ≥45 were included, of whom 71.4% were women, with a mean age of 44.9 ± 10.2 years. 43% did not have any prior history of thyrotoxicosis. Graves' disease was the most common underlying aetiology (71.4%), followed by toxic multinodular goitre (14.3%). Cardiovascular (94.3%) and gastrointestinal-hepatic dysfunction (88.6%) were the most common clinical manifestations. Features of Central nervous system (CNS) dysfunction were seen in only 42.3% of patients diagnosed with a thyroid storm. The Japanese Thyroid Association (JTA) criteria diagnosed only 26 patients (74.3%) with "definite" thyroid storm. The mortality rate was 8.6%, and all three patients expired within 48 hours of admission. Conclusion: Nearly one in every two patients with thyroid storm had previously undiagnosed thyrotoxicosis. Toxic multinodular goitre is a notable aetiology in Indians. Features of CNS dysfunction, considered relatively specific for thyroid storm, were less prominent in our series. The JTA criteria might alter the classification of some patients diagnosed with a thyroid storm, when compared to the BWS score due to fewer CNS features among Indian patients.

Neuroendocrine challenges and clinical outcomes in men with chronic traumatic brain injury: a cross-sectional study.

BACKGROUND AND OBJECTIVES: Marked changes in the hypothalamic-pituitary axis have been documented in patients with traumatic brain injury (TBI). These enduring endocrine challenges could significantly influence the physical and psychological outcomes thereby impacting overall recovery. This study aimed to determine the prevalence and types of endocrine dysfunction in men with chronic TBI and to determine the association of endocrine dysfunction with clinical outcomes. METHODOLOGY: A cross-sectional study that included male participants of 25-45 years (N = 66) with moderate to severe TBI within 6-24 months of injury. Serum Cortisol, Free T4, TSH, Luteinizing hormone, Testosterone, ACTH, Prolactin and IGF-1 were assessed. Glasgow Outcome Scale Extended (GOS-E) and Modified Barthel Index (MBI) scores were also assessed in them. RESULTS: The study cohort comprised male patients with a mean ± age of 32.8 ± 5.7 years. Low IGF-1 levels were most commonly encountered, followed by hypogonadism. Hypopituitarism was present in 56.1%. The proportion of hypogonadism was significantly higher in the group with moderate-total dependence (13/26) as compared to the functionally independent (8/40) group (50% vs. 20%; P = 0.011). Univariate and multivariate logistic regression analysis was used to determine the factors associated with hypopituitarism, revealing that severity of injury (OR = 2.6;) and GOS-E (OR = 3.1) were significant (P < 0.10) on univariate analysis. CONCLUSIONS: This study emphasizes the need to screen TBI patients for neuroendocrine dysfunction during the chronic phases and to establish screening criteria.

Femoral Neck Osteoporosis Is Associated with a Higher Odds of Coronary Artery Disease in Indian Postmenopausal Women: A Cross-sectional Study from a Teaching Hospital in Southern India.

Purpose: Epidemiological studies have shown an association between coronary artery disease (CAD) and osteoporosis. We studied the prevalence of CAD among postmenopausal women with osteoporosis. Factors that were significantly associated with CAD were also assessed. Methods: This was a cross-sectional study conducted over a period of 2 years. Consecutive postmenopausal women aged ≥50 years were recruited. The details of an underlying CAD were obtained. Bone biochemical parameters, bone mineral density and body composition were assessed. Results: A total of 370 postmenopausal women with mean (standard deviation [SD]) ages of 61.6 (6.2) and 60.1 (6.0) years and a body mass index of 25.3 (14.1) kg/m2 were recruited. Among them, 110 of 370 patients (29.7%) had an underlying CAD and 222 of 370 (60%) had osteoporosis at either the femoral neck or lumbar spine (LS). The odds of CAD among those with osteoporosis were 3.5 (95% confidence interval [CI]: 2.1-5.9). An LS T-score of ≤-2.2 had a sensitivity of 80% and a specificity of 45% in predicting CAD (area under the curve, AUC: 0.736; 95% CI: 0.677-0.795; p<0.001). A femoral neck T-score of ≤-1.9 had a sensitivity of 80% and a specificity of 60% in predicting CAD (AUC: 0.748; 95% CI: 0.696-0.800; p<0.001). On a logistic regression analysis after adjusting for various clinical parameters, femoral neck osteoporosis had the highest odds of CAD. Conclusion: The prevalence of CAD was higher among postmenopausal women with osteoporosis. Femoral neck osteoporosis conferred the highest odds of CAD after adjustment for other clinical factors.

Clinical Characteristics, Therapeutic Options, and Outcomes in Hyperphosphatemic Tumoral Calcinosis: A Systematic Review.

This systematic review was performed to understand better the myriad presentations, various therapeutic options, response to therapy, and its clinical outcomes in hyperphosphatemic tumoral calcinosis (HTC). Full texts were selected according to strict inclusion criteria. All case reports of HTC wherein baseline phosphate was measured, treatment offered was mentioned, and information on follow-up and response to therapy that were available were included. A total of 43 of 188 eligible studies (N = 63 patients) met the inclusion criteria. A list of desired data was extracted and graded for methodological quality. A total of 63 individuals (Males = 33) were included from the 43 eligible case studies. The median age of the patients was 18 (IQR 8-32) years. The most frequently involved sites were the hip/gluteal region (34/63; 53.9%) followed by the elbow/forearm (26/63; 41.2%), and the shoulder (18/63; 28.5%). Three patients had conjunctival calcific deposits. The mean (SD) phosphate was 6.9 (1.1) mg/dL. Among the subjects, 36/63 (57.1%) underwent surgical excision with some form of medical therapy. Two patients underwent only surgical excision (2.1%). One patient was maintained on follow-up (1.6%) and 24/63 (38.1%) patients were treated with medical measures. The median (IQR) follow-up duration was 3 (1-9) years. Regression or reduction in lesion size was reported in 19/63 (30.2%) subjects; 20/63 (31.7%) showed progression, 24/63 (38.1%) had features of stable disease, and mortality was reported in 3 patients (4.7%). We report for the first time a detailed description of the clinical and therapeutic response of HTC. A combination of medical measures aimed at lowering serum phosphate appears to be the cornerstone of treatment, although clinical responses may vary.

Comparative Phenotyping of Mice Reveals Canonical and Noncanonical Physiological Functions of TRα and TRß.

Thyroid hormone (TH) effects are mediated through TH receptors (TRs), TRα1, TRß1, and TRß2. The TRs bind to the DNA and regulate expression of TH target genes (canonical signaling). In addition, they mediate activation of signaling pathways (noncanonical signaling). Whether noncanonical TR action contributes to the spectrum of TH effects is largely unknown. The aim of this study was to attribute physiological effects to the TR isoforms and their canonical and noncanonical signaling. We conducted multiparameter phenotyping in male and female TR knockout mice (TRαKO, TRßKO), mice with disrupted canonical signaling due to mutations in the TR DNA binding domain (TRαGS, TRßGS), and their wild-type littermates. Perturbations in senses, especially hearing (mainly TRß with a lesser impact of TRα), visual acuity, retinal thickness (TRα and TRß), and in muscle metabolism (TRα) highlighted the role of canonical TR action. Strikingly, selective abrogation of canonical TR action often had little phenotypic consequence, suggesting that noncanonical TR action sufficed to maintain the wild-type phenotype for specific effects. For instance, macrocytic anemia, reduced retinal vascularization, or increased anxiety-related behavior were only observed in TRαKO but not TRαGS mice. Noncanonical TRα action improved energy utilization and prevented hyperphagia observed in female TRαKO mice. In summary, by examining the phenotypes of TRα and TRß knockout models alongside their DNA binding-deficient mutants and wild-type counterparts, we could establish that the noncanonical actions of TRα and TRß play a crucial role in modulating sensory, behavioral, and metabolic functions and, thus, contribute to the spectrum of physiological TH effects.

Polio Surge Capacity Support Program Contributions to Building Country Capacities in Support of Polio Outbreak Preparedness and Response: Lessons Learned and Remaining Challenges.

Despite coordinated efforts at global level, through the Global Polio Eradication Initiative (GPEI), poliomyelitis disease (Polio) is still a major public health issue. The wild poliovirus type-1 (WPV1) is still endemic in Afghanistan and Pakistan, and new circulations of the WPV1 were confirmed in southeast Africa in 2021, in Malawi and Mozambique. The circulating vaccine derived polioviruses (cVDPV) are also causing outbreaks worldwide. The Task Force for Global Health (TFGH)'s Polio Surge Capacity Support Program, established in 2019, is an effort to reinforce the existing partnership with the GPEI to strengthen countries' capacities for polio outbreak preparedness and response. In four years, its coordinated efforts with GPEI partners have resulted in a remarkable improvement in the early detection of poliovirus circulation and reducing the missed children gaps in many countries. However, these encouraging results cannot hide an increasingly complex programmatic environment with numerous funding and operational challenges.

Cold temperatures drive the latitudinal range limits and inhibit overwintering survival of the redbanded stink bug (Hemiptera: Pentatomidae).

For non-native insects that are economically damaging, understanding the drivers of range expansions and contractions is important for forecasting pest pressure. The invasion of the redbanded stink bug, Piezodorus guildinii (Westwood) (Hemiptera: Pentatomidae), reached Louisiana, United States, in 2000, after which the northern range limits of this species have fluctuated annually. Low winter temperatures have been implicated as a major driver of this pattern, but the importance of cold temperatures-or other abiotic factors-for the persistence of this pest over large geographic scales are incompletely understood. We coupled occurrence data of P. guildinii with climatic data to investigate trends in P. guildinii presence in relation to winter temperatures and develop species distribution models, forecasting habitat suitability based on current and future climatic scenarios. Our results show that (i) some P. guildinii persisted in locations where ambient temperatures reached -12°C, (ii) overwintering temperatures drive P. guildinii range dynamics, and (iii) with intermediate projections of climatic warming, northward expansion by P. guildinii in North America is likely to be minimal. While the northern extent of P. guildinii's range may now be largely realized in North America, our results suggest that increased frequency of mild winters could reduce interannual fluctuations of P. guildinii and enable it to become a more consistent economic concern for soybean growers throughout the Midsouth region of the United States.

Afforestation using a range of tree species, in New Zealand: New Forest trial series establishment, site description, and initial data.

Global climate change and shift towards a bio-economy has heightened the need to design sustainable forestry systems that balance economic, environmental and social benefits. In New Zealand, production forests are dominated by planted Pinus radiata, which makes up 90 % of the planted forest area. There is very little data driven evidence in New Zealand to support diversifying across a range of tree species and what timber and non-timber benefits may be gained by diversifying tree species in New Zealand's production forests. The New Zealand New Forest Trial Series (NFTS) was designed and established in 2013 on marginal pastoral land to address the knowledge gap for how afforesting land with different trees species, both exotic and indigenous to New Zealand, across a climate range can deliver to both timber and non-timber benefits. These trials were planted with Cupressocyparis ovensii, Eucalyptus fastigata, Fraxinus excelsior, Nothofagus fusca (plus Leptospermum scoparium), Pinus radiata, Podocarpus totara and Sequoia sempervirens plus a control with no planting to monitor natural succession. The Before-After-Control-Impact (BACI) experiment design has collected pre-planting data describing the present vegetation and a range of soil properties, presented in this paper. This will allow the comparative monitoring of the changes that will occur through planting the various tree species on marginal land in different environments through time. With time the long-term trials will deliver data evidence on tree species survival when planted into marginal pastoral land, tree productivity and the flow of economic, environmental and social benefits from the new plantings. This knowledge will strengthen New Zealand's forestry sector confidence to make informed decisions to diversify tree species with changing climatic and social challenges.

Role of Genetic Testing in the Management of Indeterminate Thyroid Nodules in the Indian Setting.

The increased detection of thyroid nodules in the human population has led to an increase in the number of thyroid surgeries without an improvement in survival outcomes. Though the choice for surgery is straightforward in malignant thyroid nodules, the decision is far more complex in those nodules that get categorized into indeterminate thyroid nodules (ITN) by fine needle aspiration. Therefore, there is a pressing need to develop a tool that will aid in decision-making among the ITN. In this context, the development of various molecular testing (MT) panels has helped to confirm or rule out malignancy, reducing unnecessary surgeries and potentially guiding the extent of surgery as well. Currently, such tests are widely used among the Western population but these MT panels are not used by the South Asian population because of non-availability of validated panels and the high cost involved. There is a need to develop a suitable panel which is population-specific and validate the same. In this review, we would focus on current trends in the management of ITN among the South Asian population and how to develop a novel MT panel which is cost-effective, with high diagnostic accuracy obviating the need for expensive panels that already exist.

Personalized, interdisciplinary patient pathway for cross-sector care of multimorbid patients (eliPfad trial): study protocol for a randomized controlled trial.

BACKGROUND: Multimorbid and frail elderly patients often carry a high burden of treatment. Hospitalization due to the onset of an acute illness can disrupt the fragile balance, resulting in further readmissions after hospital discharge. Current models of care in Germany do not meet the needs of this patient group. Rather lack of coordination and integration of care combined with a lack of interdisciplinary approaches result in fragmented and inadequate care and increase the burden of treatment even more. METHODS: eliPfad is a randomized controlled trial conducted in 6 hospitals in Germany. Multimorbid elderly patients aged 55 or older are randomly assigned to the intervention or control group. Patients in the intervention group receive the eliPfad intervention additional to standard care. The core components of eliPfad are: Early assessment of patients' individual treatment burden and support through a specially trained case manager Involvement of the patient's general practitioner (GP) right from the beginning of the hospital stay Preparation of an individual, cross-sectoral treatment plan through the interdisciplinary hospital team with the involvement of the patient's GP Establishment of a cross-sectoral electronic patient record (e-ePA) for documentation and cross-sectoral exchange Support/Promote patient adherence Tailored early rehabilitation during the hospital stay, which is continued at home Close-tele-monitoring of medically meaningful vital parameters through the use of tablets, digital devices, and personal contacts in the home environment The intervention period begins in the hospital and continues 6 weeks after discharge. Patients in the control group will be treated according to standard clinical care and discharged according to current discharge management. The primary aim is the prevention/reduction of readmissions in the first 6 months after discharge. In addition, the impact on health-related quality of life, the burden of treatment, survival, self-management, medication prescription, health literacy, patient-centered care, cost-effectiveness, and process evaluation will be examined. Nine hundred forty-eight patients will be randomized 1:1 to intervention and control group. DISCUSSION: If eliPfad leads to fewer readmissions, proves (cost-)effective, and lowers the treatment burden, it should be introduced as a new standard of care in the German healthcare system. TRIAL REGISTRATION: The trial was registered in the German Clinical Trials Registry (Deutsches Register Klinischer Studien (DRKS)) on 08/14/2023 under the ID DRKS00031500 .

Histone lysine acetyltransferase inhibitors: an emerging class of drugs for cancer therapy.

Lysine acetyltransferases (KATs) are a family of epigenetic enzymes involved in the regulation of gene expression; they represent a promising class of emerging drug targets. The frequent molecular dysregulation of these enzymes, as well as their mechanistic links to biological functions that are crucial to cancer, have led to exploration around the development of small-molecule inhibitors against KATs. Despite early challenges, recent advances have led to the development of potent and selective enzymatic and bromodomain (BRD) KAT inhibitors. In this review we discuss the discovery and development of new KAT inhibitors and their application as oncology therapeutics. Additionally, new chemically induced proximity approaches are presented, offering opportunities for unique target selectivity profiles and tissue-specific targeting of KATs. Emerging clinical data for CREB binding protein (CREBBP)/EP300 BRD inhibitors and KAT6 catalytic inhibitors indicate the promise of this target class in cancer therapeutics.

Overwintering site selection and associated microclimates for the redbanded stink bug (Hemiptera: Pentatomidae), a non-native pest of soybean.

Cold winter temperatures govern the distribution and abundance of many insect species, but refugia that provide microclimates can moderate temperature-driven mortality. Winter temperatures have been implicated in limiting the survival and range of Piezodorus guildinii (Westwood) (Hemiptera: Pentatomidae; redbanded stink bug), an economically damaging invasive pest in the southeastern United States, but the role of refugia in overwintering survival of this pest is poorly understood. We conducted 2 studies in successive years to evaluate how leaf litter from hardwoods, pines, and soybeans modulate overwintering site selection and survival of P. guildinii. In the second-year study, we also quantified the buffering effect of the 3 leaf litter types compared to ambient conditions and assessed diapause. In the first-year study, we found that stink bugs preferentially dispersed into leaf litter compared with remaining unsheltered on bare soil; no clear preference among leaf litter types was found. In the second year, however, no clear differences were found among leaf litter types and bare soil. Means of daily minimum temperatures under leaf litter were at least 3.0 ±â€…0.9 °C (SE) warmer and generally less variable than ambient conditions. While high mortality in both studies illustrates that more work must be done to fully understand overwintering survival, limited survival through potentially lethal conditions in the first-year study nonetheless emphasizes the possibility of populations persisting and rebounding in the following spring. Furthermore, our study highlights the potential for stink bugs to persist in areas with lethal ambient temperatures by dispersing into widely available substrates.

The podocytes' inflammatory responses in experimental GN are independent of canonical MYD88-dependent toll-like receptor signaling.

Podocytes form the kidney filtration barrier and continuously adjust to external stimuli to preserve their integrity even in the presence of inflammation. It was suggested that canonical toll-like receptor signaling, mediated by the adaptor protein MYD88, plays a crucial role in initiating inflammatory responses in glomerulonephritis (GN). We explored the influence of podocyte-intrinsic MYD88 by challenging wild-type (WT) and podocyte-specific Myd88 knockout (MyD88pko) mice, with a model of experimental GN (nephrotoxic nephritis, NTN). Next-generation sequencing revealed a robust upregulation of inflammatory pathways and changes in cytoskeletal and cell adhesion proteins in sorted podocytes from WT mice during disease. Unchallenged MyD88pko mice were healthy and showed no proteinuria, normal kidney function and lacked morphological changes. During NTN, MyD88pko exhibited a transient increase in proteinuria in comparison to littermates, while histological damage, podocyte ultrastructure in STED imaging and frequencies of infiltrating immune cells by flow cytometry were unchanged. MYD88-deficiency led to subtle changes in the podocyte transcriptome, without a significant impact on the overall podocyte response to inflammation, presumably through MYD88-independent signaling pathways. In conclusion, our study reveals a comprehensive analysis of podocyte adaptation to an inflammatory environment on the transcriptome level, while MYD88-deficiency had only limited impact on the course of GN suggesting additional signaling through MYD88-independent signaling.

Salmon sperm DNA increases sample recovery from cotton swabs.

Forensic samples with low DNA template amounts are difficult to analyze and interpret. There is a large body of research demonstrating that adding carrier nucleic acid to storage tubes, solid phase extractions, or filtering devices can improve yields of target DNA. However, the addition of carrier nucleic acid to sampling substrates, like cotton swabs, has not yet been attempted. In this proof-of-concept study, carrier nucleic acids in the form of either Poly (A) RNA or salmon sperm DNA were spotted onto cotton swabs, followed by human genomic DNA, to determine if introducing the carrier prior to sample collection would increase recovery from the swabs post-extraction. Extracts were also evaluated to determine whether adding the carrier nucleic acids to human DNA would interfere with downstream forensic DNA analysis processes such as real-time PCR quantitation, PCR amplification of STR loci, or capillary electrophoresis. The RNA carrier did not improve human sample recovery from cotton swabs. The extraction efficiency of human DNA from cotton swabs was increased when the DNA carrier was applied to the swabs prior to sample deposition, and the scale of the increase depended on the amount of carrier DNA used. When applying the salmon sperm DNA carrier to cotton swabs, with each increase from no carrier to 0.001-1-10 µg, human DNA recovery went from ∼29 % to ∼50 % to ∼75 % to ∼100 %. Additionally, no inhibitory effects from the carrier DNA were observed post-extraction with quantitation or in the DNA profile after amplification. Therefore, salmon sperm DNA carrier will increase human DNA yield from cotton swabs without negative effects on downstream forensic DNA profiling methods, with the optimal carrier amount being 10 µg.

Inherited fibroblast growth factor 23 excess.

Syndromes of inherited fibroblast growth factor 23 (FGF-23) excess encompass a wide spectrum that includes X-linked hypophosphataemia (XLH), autosomal dominant and recessive forms of rickets as well as various syndromic conditions namely fibrous dysplasia/McCune Albright syndrome, osteoglophonic dysplasia, Jansen's chondrodysplasia and cutaneous skeletal hypophosphataemia syndrome. A careful attention to patient symptomatology, family history and clinical features, supported by appropriate laboratory tests will help in making a diagnosis. A genetic screen may be done to confirm the diagnosis. While phosphate supplements and calcitriol continue to be the cornerstone of treatment, in recent times burosumab, the monoclonal antibody against FGF-23 has been approved for the treatment of children and adults with XLH. While health-related outcomes may be improved by ensuring adherence and compliance to prescribed treatment with a smooth transition to adult care, bony deformities may persist in some, and this would warrant surgical correction.