Letter to the editor in response to Duan X, et al, CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).

Duan X, et al, report that CYP4A22 loss-of-function causes a new form of vitamin D-dependent rickets. Here we describe the basis for our rejection of their proposal and provide evidence that the CYP4A22 variant that they have identified (c.901del, p.

Unusual variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets.

X-linked hypophosphatemic rickets (XLH), the most common form of hereditary rickets, is characterized by renal phosphate wasting and abnormal vitamin D metabolism due to elevated circulating levels of the phosphatonin fibroblast growth factor 23 (FGF23). Dominant inactivating variants of the phosphate regulating endopeptidase homolog, X-linked (), gene are present in patients with XLH, and more than half of affected patients carry de novo variants. We report on 3 families in whom affected members had highly unusual pathogenic variants.

An activating CaSR variant with biased signaling reveals a critical residue for Gα11 coupling.

Autosomal dominant hypocalcemia (ADH) is due to enhanced calcium-dependent signaling caused by heterozygous gain-of-function (GOF) variants in the CASR gene (ADH1) or in the GNA11 gene, encoding Gα11 (ADH2). Both ADH1 and ADH2 are associated with hypocalcemia and normal or inappropriately low levels of circulating PTH. ADH1 patients typically manifest hypercalciuria, while ADH2 is associated with short stature in approximately 42% of cases.

Perioperative management of patients with glioblastoma copresenting with pheochromocytoma: illustrative case.

Background: Undiagnosed pheochromocytoma can present with hemodynamic instability during surgical procedures. Here, the authors discuss a 69-year-old male with isocitrate dehydrogenase (IDH)-wildtype glioblastoma copresenting with undiagnosed pheochromocytoma, which, to the authors' knowledge, is the second reported case in the literature.

Observations: The patient presented to the emergency department with a 1-month history of coordination difficulties, progressive morning headache, and mild left-side weakness.

Chronic Symptomatology Among Infants, Children, and Adolescents Within 12 Months After SARS-CoV-2 Infection.

. The objective of this public health surveillance project was to estimate the proportion of persons under the age of 18 years with confirmed SARS-CoV-2 infection who developed chronic symptoms and to further characterize the symptoms and associated factors. .

Pedagogic Strategies and Contents in Medical Writing/Publishing Education: A Comprehensive Systematic Survey.

Workshops or training sessions on medical writing and publishing exist worldwide. We aimed to evaluate published articles about such workshops and examine both the content and teaching strategies employed. We searched ISI Web of Science, Ovid EMBASE, ERIC, Ovid Medline, and the grey literature.

Clinical Efficacy of Zoledronic Acid on Fracture Reduction in Youth with Primary and Secondary Skeletal Fragility.

Context: Prior studies have demonstrated the safety and efficacy of zoledronic acid (ZA) to increase bone mineral density (BMD) in children. By contrast, the efficacy of ZA on fractures in the pediatric population remains uncertain.

Objective: To investigate the effect of ZA on fracture rate in a clinical cohort of children and young adults with skeletal fragility.

Hispanic adults with type 2 diabetes mellitus using lipid-lowering agents have better periodontal health than non-users.

Background: Recent studies suggest that lipid-lowering agents (LLA) may reduce chronic periodontitis, but it is unknown whether this benefit extends to people with type 2 diabetes (T2D).

Objective: We assessed the association between LLA use and periodontitis in Hispanic adults with T2D.

Design: This was a cross-sectional observational study.

Autism Symptom Presentation and Hierarchical Models of Intelligence.

Background: There is a substantial history studying the relationship between general intelligence and the core symptoms of autism. However, a gap in knowledge is how dimensional autism symptomatology associates with different components of clinically-relevant hierarchical models of intelligence.

Method: We examined correlations between autism diagnostic symptom magnitude (Autism Diagnostic Observational Schedule; ADOS) and a hierarchical statistical model of intelligence.

Prospective assessment of the impact of intraoperative diuretics in kidney transplant recipient surgery.

Background: The use of intraoperative diuretics, such as furosemide or mannitol, during kidney transplantation has been suggested to reduce the rate of delayed graft function (DGF). The evidence base for this is sparse, however, and there is substantial variation in practice. We sought to evaluate whether the use of intraoperative diuretics during kidney transplantation translated into a reduction in DGF.

Evaluation of the TraumaGuard Balloon-in-Balloon Catheter Design for Intra-Abdominal Pressure Monitoring: Insights from Pig and Human Cadaver Studies.

: Intra-abdominal pressure (IAP) monitoring is crucial for the detection and prevention of intra-abdominal hypertension (IAH) and abdominal compartment syndrome (ACS). In the 1970s, air-filled catheters (AFCs) for urodynamic studies were introduced as a solution to overcome the limitations of water-perfused catheters. Recent studies have shown that for correct IAP measurement with traditional AFC, the bladder needs to be primed with 25 mL of saline solution to allow pressure wave transmission to the transducer outside of the body, which limits continuous IAP monitoring.

Periodontal Disease, Local and Systemic Inflammation in Puerto Ricans with Type 2 Diabetes Mellitus.

Unlabelled: Periodontal disease (PD) is prevalent in type 2 diabetic condition (T2DM).

Objectives: We assessed the associations between serum or gingival crevicular fluid (GCF) endothelial and inflammatory mediators and chronic PD among T2DM Hispanic adults.

Methods: We enrolled 248 Puerto Rican residents with T2DM aged 40-65 years.

A Prospective Study of the Effect of Gastroduodenal Artery Reconstruction on Duodenal Oxygenation and Enzyme Content After Pancreas Transplantation.

Background: Whole pancreas transplantation provides durable glycemic control and can improve survival rate; however, it can carry an increased risk of surgical complications. One devastating complication is a duodenal leak at the site of enteroenteric anastomosis. The gastroduodenal artery (GDA) supplies blood to the donor duodenum and pancreas but is commonly ligated during procurement.

A Multi-Trait Multi-Method Examination of Psychometric Instrument Performance in Autism Spectrum Disorder.

Anecdotal evidence has suggested that rater-based measures (e.g., parent report) may have strong across-trait/within-individual covariance that detracts from trait-specific measurement precision; rater measurement-related bias may help explain poor correlation within Autism Spectrum Disorder (ASD) samples between rater-based and performance-based measures of the same trait.

Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.

Here we report the use of denosumab, a monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), as monotherapy for multicentric carpotarsal osteolysis syndrome (MCTO) in an 11.5-year-old male with a heterozygous missense mutation in (c.206C>T; p.

Autism and Hierarchical Models of Intelligence.

Background: The Wechsler Intelligence Scale for Children (WISC) employs a hierarchical model of general intelligence in which index scores separate out different clinically-relevant aspects of intelligence; the test is designed such that index scores are statistically independent from one another within the normative sample. Whether or not the existing index scores meet the desired psychometric property of being statistically independent within autistic samples is unknown.

Method: We conducted a factor analysis on WISC fifth edition (WISC-V) (N = 83) and WISC fourth edition (WISC-IV) (N = 131) subtest data in children with autism.

Long-Term Safety and Efficacy of Recombinant Human Parathyroid Hormone (1-84) in Adults With Chronic Hypoparathyroidism.

Context: Chronic hypoparathyroidism is conventionally treated with oral calcium and active vitamin D to reach and maintain targeted serum calcium and phosphorus levels, but some patients remain inadequately controlled.

Objective: To assess long-term safety and efficacy of recombinant human parathyroid hormone (1-84) (rhPTH(1-84)) treatment.

Methods: This was an open-label extension study at 12 US centers.

Rifampin monotherapy for children with idiopathic infantile hypercalcemia.

Idiopathic Infantile Hypercalcemia (IIH) is characterized by hypercalcemia and hypercalciuria owing to PTH-independent increases in circulating concentrations of 1,25(OH)2D. At least 3 forms of IHH can be distinguished genetically and mechanistically: infantile hypercalcemia-1 (Hypercalcemia, Infantile, 1; HCINF1) due to CYP24A1 mutations results in decreased inactivation of 1,25(OH)2D; HCINF2 due to SLC34A1 mutations results in excessive 1,25(OH)2D production; and HCINF3 in which a variety of gene variants of uncertain significance (VUS) have been identified and where the mechanism for increased 1,25 (OH)2D is unclear. Conventional management with dietary calcium and vitamin D restriction has only limited success.

Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review.

This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.

Introduction: Activating mutation of the calcium-sensing receptor gene (CASR) reduces parathyroid hormone secretion and renal tubular reabsorption of calcium, defined as autosomal dominant hypocalcemia type 1 (ADH1). Patients with ADH1 may present with hypocalcemia-induced seizures. Calcitriol and calcium supplementation in symptomatic patients may exacerbate hypercalciuria, leading to nephrocalcinosis, nephrolithiasis, and compromised renal function.